1. Home
2. Browse
   • HMDB Browse
   • Disease Browse
   • PathBrowse
   • Biofluid Browse
   • HML Browse
   • ClassBrowse
3. Search
   • Chem Query
   • Text Query
   • Sequence Search
   • Data Extractor
   • MS Search
   • MS/MS Search
   • GC/MS Search
   • NMR Search
4. About
   • About the HMDB
   • Release Notes
   • Citing the HMDB
   • What's New
   • Statistics
   • Data Sources
   • MetaboCard Explanation
   • Other Databases
5. Downloads
6. Contact Us

We are currently updating the database - data may be missing for the next 10 minutes. We apologize for any inconvenience.

Human Metabolome Database Version 2.5

Browsing diseases

Search by metabolite

Enter metabolite names, separated by "; " [semi-colon followed by a space])

Example: SAICAR; succinyladenosine; uric acid

   Clear (show full list)

11-beta-hydroxylase deficiency (OMIM: 202010 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04030 21-Deoxycortisol Blood Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [PubMed ] HMDB10375 CE(22:5(7Z,10Z,13Z,16Z,19Z)) Blood Psychogios N, Hau DD, Peng J, Guo AC, Mandal R, Bouatra S, Sinelnikov I, Krishnamurthy R, Eisner R, Gautam B, Young N, Xia J, Knox C, Dong E, Huang P, Hollander Z, Pedersen TL, Smith SR, Bamforth F, Greiner R, McManus B, Newman JW, Goodfriend T, Wishart DS: The human serum metabolome. PLoS One. 2011 Feb 16;6(2):e16957. [PubMed ] Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. [PubMed ] HMDB02030 Fructosamine Blood; Saliva Paroni R, Ceriotti F, Galanello R, Battista Leoni G, Panico A, Scurati E, Paleari R, Chemello L, Quaino V, Scaldaferri L, Lapolla A, Mosca A: Performance characteristics and clinical utility of an enzymatic method for the measurement of glycated albumin in plasma. Clin Biochem. 2007 Dec;40(18):1398-405. Epub 2007 Aug 10. [PubMed ] HMDB03231 Vaccenic acid Blood Psychogios N, Hau DD, Peng J, Guo AC, Mandal R, Bouatra S, Sinelnikov I, Krishnamurthy R, Eisner R, Gautam B, Young N, Xia J, Knox C, Dong E, Huang P, Hollander Z, Pedersen TL, Smith SR, Bamforth F, Greiner R, McManus B, Newman JW, Goodfriend T, Wishart DS: The human serum metabolome. PLoS One. 2011 Feb 16;6(2):e16957. [PubMed ] Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. [PubMed ]
2-Aminoadipic aciduria (OMIM: 204750 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00510 Aminoadipic acid Blood; Urine Metagene: 2-AMINOADIPIC ACIDURIA
2-hydroxyglutaric aciduria (OMIM: 236792 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00694 L-2-Hydroxyglutaric acid Blood; CSF; Urine Metagene: 2-HYDROXYGLUTARIC ACIDEMIA (L) [PubMed ]
2-ketoadipic acidemia (OMIM: 245130 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00321 2-Hydroxyadipic acid Urine Metagene: 2-KETOADIPIC ACIDEMIA HMDB00510 Aminoadipic acid Blood; Urine Metagene: 2-KETOADIPIC ACIDEMIA HMDB00225 Oxoadipic acid Urine Metagene: 2-KETOADIPIC ACIDEMIA
2-Ketoglutarate dehydrogenase complex deficiency (OMIM: 203740 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00208 Oxoglutaric acid Blood; Cellular Cytoplasm; CSF; N/A; Urine Metagene: 2-KETOGLUTARATE DEHYDROGENASE COMPLEX DEFICIENCY [PubMed ]
21-hydroxylase deficiency (OMIM: 201910 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00374 17-Hydroxyprogesterone Blood; Saliva; Urine Metagene: 21-HYDROXYLASE DEFICIENCY (CYP21) HMDB04030 21-Deoxycortisol Blood Tonetto-Fernandes V, Lemos-Marini SH, Kuperman H, Ribeiro-Neto LM, Verreschi IT, Kater CE: Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2006 Jun;91(6):2179-84. Epub 2006 Mar 21. [PubMed ]
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (OMIM: 246450 ) 7 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00355 3-Hydroxymethylglutaric acid Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00459 3-Methylcrotonylglycine Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00522 3-Methylglutaconic acid Blood; Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00448 Adipic acid Blood; CSF; Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY HMDB00752 Methylglutaric acid Urine Metagene: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
3-Hydroxyisobutyric aciduria (OMIM: 236795 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00023 (S)-3-Hydroxyisobutyric acid Blood; CSF; Urine Metagene: 3-HYDROXYISOBUTYRIC ACIDURIA
3-methyl-crotonyl-glycinuria (OMIM: 210200 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Metagene: 3-METHYL-CROTONYL-GLYCINURIA HMDB00459 3-Methylcrotonylglycine Urine Metagene: 3-METHYL-CROTONYL-GLYCINURIA HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Metagene: 3-METHYL-CROTONYL-GLYCINURIA HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Metagene: 3-METHYL-CROTONYL-GLYCINURIA
3-Methylglutaconic aciduria (OMIM: 250950 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA: NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr;19(2):271-8. [PubMed ]
3-Methylglutaconic aciduria type I (OMIM: 250950 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Metagene: 3-METHYLGLUTACONIC ACIDURIA (TYPE I) HMDB00522 3-Methylglutaconic acid Blood; Urine Metagene: 3-METHYLGLUTACONIC ACIDURIA (TYPE I) HMDB00752 Methylglutaric acid Urine Metagene: 3-METHYLGLUTACONIC ACIDURIA (TYPE I)
3-methylglutaconic aciduria type II, X-linked (OMIM: 302060 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00243 Pyruvic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Metagene: 3-METHYLGLUTACONIC ACIDURIA (TYPE II), X-LINKED
5-oxoprolinase deficiency (OMIM: 260005 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00267 Pyroglutamic acid Blood; CSF; Urine Metagene: 5-OXOPROLINASE DEFICIENCY
Abetalipoproteinemia (OMIM: 200100 ) 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04844 Ganglioside GM3 (d18:1/16:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB00140 Glucosylceramide Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04866 Lactosylceramide (d18:1/12:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04958 Tetrahexosylceramide (d18:1/12:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04877 Trihexosylceramide (d18:1/12:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04880 Trihexosylceramide (d18:1/18:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04882 Trihexosylceramide (d18:1/22:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04886 Trihexosylceramide (d18:1/24:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04884 Trihexosylceramide (d18:1/26:1(17Z)) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
ACTH deficiency, isolated (OMIM: 201400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Metagene: ACTH DEFICIENCY, ISOLATED
Acute liver disease 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01045 Enkephalin L Blood Thornton JR, Losowsky MS: Plasma leucine enkephalin is increased in liver disease. Gut. 1989 Oct;30(10):1392-5. [PubMed ]
Acute liver failure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Acute myelogenous leukemia (OMIM: 602439 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed ] HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Tatidis L, Vitols S, Gruber A, Paul C, Axelson M: Cholesterol catabolism in patients with acute myelogenous leukemia and hypocholesterolemia: suppressed levels of a circulating marker for bile acid synthesis. Cancer Lett. 2001 Sep 20;170(2):169-75. [PubMed ]
Acute seizures 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00192 L-Cystine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
Addison's Disease (OMIM: 240200 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Metagene: HYPOADRENOCORTICISM, FAMILIAL HMDB00068 Epinephrine Blood; CSF; Urine Bornstein SR, Breidert M, Ehrhart-Bornstein M, Kloos B, Scherbaum WA: Plasma catecholamines in patients with Addison's disease. Clin Endocrinol (Oxf). 1995 Feb;42(2):215-8. [PubMed ]
Adenosine deaminase deficiency (OMIM: 102700 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB11599 1-Methyladenine Urine Mills GC: 1-Methyladenine in urine of an adenosine deaminase-deficient adult without immunodeficiency. Biochem Med Metab Biol. 1989 Dec;42(3):240-7. [PubMed ] HMDB00101 Deoxyadenosine Urine 9869364 [PubMed ]
Adenylosuccinate lyase deficiency (OMIM: 103050 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00797 SAICAR CSF Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ] HMDB00912 Succinyladenosine Blood; CSF Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Marinaki AM, Champion M, Kurian MA, Simmonds HA, Marie S, Vincent MF, van den Berghe G, Duley JA, Fairbanks LD: Adenylosuccinate lyase deficiency--first British case. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1231-3. [PubMed ]
Adrenal hypoplasia (OMIM: 300200 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Metagene: ADRENAL HYPOPLASIA. ADDISON DISEASE, X-LINKED
Adrenoleukodystrophy (OMIM: 300100 ) 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02356 Hexacosanoic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL HMDB00716 L-Pipecolic acid Blood Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ] HMDB00801 Phytanic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Metagene: ADRENOLEUKODYSTROPHY, X-LINKED HMDB00795 Pristanic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL HMDB02163 Trihydroxycoprostanoic acid Blood Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ]
Adrenoleukodystrophy, neonatal 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02356 Hexacosanoic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL HMDB00801 Phytanic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL HMDB00795 Pristanic acid Blood Metagene: ADRENOLEUKODYSTROPHY, NEONATAL
Adrenomyeloneuropathy (OMIM: 300100 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02068 Erucic acid Blood Aubourg P, Adamsbaum C, Lavallard-Rousseau MC, Rocchiccioli F, Cartier N, Jambaque I, Jakobezak C, Lemaitre A, Boureau F, Wolf C, et al.: A two-year trial of oleic and erucic acids ("Lorenzo's oil") as treatment for adrenomyeloneuropathy. N Engl J Med. 1993 Sep 9;329(11):745-52. [PubMed ] HMDB02356 Hexacosanoic acid Blood Sadeghi-Nejad A, Senior B: Adrenomyeloneuropathy presenting as Addison's disease in childhood. N Engl J Med. 1990 Jan 4;322(1):13-6. [PubMed ]
AIDS 7 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01396 5-Methyltetrahydrofolic acid Blood; CSF Surtees R, Hyland K, Smith I: Central-nervous-system methyl-group metabolism in children with neurological complications of HIV infection. Lancet. 1990 Mar 17;335(8690):619-21. [PubMed ] HMDB00039 Butyric acid Blood; CSF; Saliva; Urine Stein TP, Koerner B, Schluter MD, Leskiw MJ, Gaprindachvilli T, Richards EW, Cope FO, Condolucci D: Weight loss, the gut and the inflammatory response in aids patients. Cytokine. 1997 Feb;9(2):143-7. [PubMed ] HMDB00098 D-Xylose Blood; Urine Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ] HMDB00574 L-Cysteine Blood; CSF; Urine Naisbitt DJ, Vilar FJ, Stalford AC, Wilkins EG, Pirmohamed M, Park BK: Plasma cysteine deficiency and decreased reduction of nitrososulfamethoxazole with HIV infection. AIDS Res Hum Retroviruses. 2000 Dec 10;16(18):1929-38. [PubMed ] HMDB00765 Mannitol Blood; CSF; Urine Megson GM, Stevens DA, Hamilton JR, Denning DW: D-mannitol in cerebrospinal fluid of patients with AIDS and cryptococcal meningitis. J Clin Microbiol. 1996 Jan;34(1):218-21. [PubMed ] HMDB00845 Neopterin Blood; CSF; Urine Ellaurie M, Calvelli T, Rubinstein A: Neopterin concentrations in pediatric human immunodeficiency virus infection as predictor of disease activity. Pediatr Infect Dis J. 1992 Apr;11(4):286-9. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Heyes MP, Saito K, Lackner A, Wiley CA, Achim CL, Markey SP: Sources of the neurotoxin quinolinic acid in the brain of HIV-1-infected patients and retrovirus-infected macaques. FASEB J. 1998 Jul;12(10):881-96. [PubMed ]
Alcoholism 17 metabolites
HMDB ID Name Biofluid Location(s) References HMDB11469 2-Butanol Blood Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ] HMDB03759 5a-Pregnane-3,20-dione Blood Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00990 Acetaldehyde Blood; CSF; Urine Brecher AS, Adamu MT: Short- and long-term effects of acetaldehyde on plasma. Alcohol. 2002 Jan;26(1):49-53. [PubMed ] HMDB01659 Acetone Blood; CSF; Urine Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ] HMDB01449 Allopregnanolone Blood; CSF Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00474 Butanone Blood; Urine Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ] HMDB02961 Dihydrotestosterone Blood; CSF Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00108 Ethanol Blood; CSF; Saliva; Urine 2779169 [PubMed ] HMDB00863 Isopropyl alcohol Blood; CSF Jones AW, Lund M, Andersson E: Drinking drivers in Sweden who consume denatured alcohol preparations: an analytical-toxicological study. J Anal Toxicol. 1989 Jul-Aug;13(4):199-203. [PubMed ] HMDB01875 Methanol Blood; CSF; Saliva; Urine 2779169 [PubMed ] [PubMed ] HMDB01488 Nicotinic acid Blood; CSF; Urine Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ] HMDB00210 Pantothenic acid Blood; CSF; Urine Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ] HMDB01830 Progesterone Blood; CSF Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00244 Riboflavin Blood; CSF; Urine Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ] HMDB06088 Scyllitol Blood; CSF Viola A, Nicoli F, Denis B, Confort-Gouny S, Le Fur Y, Ranjeva JP, Viout P, Cozzone PJ: High cerebral scyllo-inositol: a new marker of brain metabolism disturbances induced by chronic alcoholism. MAGMA. 2004 Sep;17(1):47-61. Epub 2004 Aug 31. [PubMed ] HMDB00879 Tetrahydrodeoxycorticosterone Blood; Urine Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00235 Thiamine Blood; CSF; Urine Dastur DK, Santhadevi N, Quadros EV, Avari FC, Wadia NH, Desai MN, Bharucha EP: The B-vitamins in malnutrition with alcoholism. A model of intervitamin relationships. Br J Nutr. 1976 Sep;36(2):143-59. [PubMed ]
Aldehyde dehydrogenase deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00990 Acetaldehyde Blood; CSF; Urine Brecher AS, Adamu MT: Short- and long-term effects of acetaldehyde on plasma. Alcohol. 2002 Jan;26(1):49-53. [PubMed ]
Aldosterone biosynthesis defects 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00319 18-Hydroxycorticosterone Blood Peter M, Partsch CJ, Sippell WG: Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab. 1995 May;80(5):1622-7. [PubMed ]
Alkaptonuria (OMIM: 203500 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00130 Homogentisic acid Blood; Urine 12501223 [PubMed ] [PubMed ] [PubMed ]
Alpha-1-antitrypsin deficiency (OMIM: 107400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Alpha-aminoadipic aciduria 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00510 Aminoadipic acid Blood; Urine Vallat C, Rivier F, Bellet H, Magnan de Bornier B, Mion H, Echenne B: Treatment with vigabatrin may mimic alpha-aminoadipic aciduria. Epilepsia. 1996 Aug;37(8):803-5. [PubMed ]
Alzheimer's disease (OMIM: 104300 ) 86 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02712 1,5-Anhydrosorbitol Blood; CSF Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB00001 1-Methylhistidine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB01336 3,4-Dihydroxybenzeneacetic acid Blood; CSF; Urine Raskind MA, Peskind ER, Holmes C, Goldstein DS: Patterns of cerebrospinal fluid catechols support increased central noradrenergic responsiveness in aging and Alzheimer's disease. Biol Psychiatry. 1999 Sep 15;46(6):756-65. [PubMed ] HMDB00479 3-Methylhistidine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB06055 4-Hydroxy-L-proline Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB04362 4-Hydroxynonenal Blood; CSF; Urine Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed ] HMDB00450 5-Hydroxylysine Blood; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB02032 8-Hydroxyguanine Blood; CSF Lovell MA, Markesbery WR: Ratio of 8-hydroxyguanine in intact DNA to free 8-hydroxyguanine is increased in Alzheimer disease ventricular cerebrospinal fluid. Arch Neurol. 2001 Mar;58(3):392-6. [PubMed ] HMDB02044 8-Hydroxyguanosine Blood; CSF Abe T, Tohgi H, Isobe C, Murata T, Sato C: Remarkable increase in the concentration of 8-hydroxyguanosine in cerebrospinal fluid from patients with Alzheimer's disease. J Neurosci Res. 2002 Nov 1;70(3):447-50. [PubMed ] HMDB00895 Acetylcholine CSF; Urine Jia JP, Jia JM, Zhou WD, Xu M, Chu CB, Yan X, Sun YX: Differential acetylcholine and choline concentrations in the cerebrospinal fluid of patients with Alzheimer's disease and vascular dementia. Chin Med J (Engl). 2004 Aug;117(8):1161-4. [PubMed ] HMDB01247 Aluminum Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00194 Anserine Blood; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB04142 Barium Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB02387 Beryllium Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB02196 Bismuth Blood Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB03638 Cadmium Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00464 Calcium Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00033 Carnosine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00097 Choline Blood; Breast Milk; CSF; Saliva; Urine Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB00904 Citrulline Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00608 Cobalt Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00657 Copper Blood; CSF; Urine 9720975 [PubMed ] HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ] HMDB00609 DL-Dopa Blood Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00073 Dopamine Blood; CSF; Urine 10494443 [PubMed ] HMDB03869 Epsilon-(gamma-Glutamyl)-lysine Blood; CSF Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00121 Folic acid Blood; Cellular Cytoplasm; CSF; Urine Selley ML, Close DR, Stern SE: The effect of increased concentrations of homocysteine on the concentration of (E)-4-hydroxy-2-nonenal in the plasma and cerebrospinal fluid of patients with Alzheimer's disease. Neurobiol Aging. 2002 May-Jun;23(3):383-8. [PubMed ] HMDB00134 Fumaric acid Blood; CSF; Urine Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ] HMDB00107 Galactitol Amniotic Fluid; Blood; CSF; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00086 Glycerophosphocholine Blood; Breast Milk; CSF; Semen Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00721 Glycylproline Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine 11959400 [PubMed ] HMDB00725 Hydroxyproline Blood; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00692 Iron Blood; CSF; Urine 9720975 [PubMed ] HMDB06284 L-2,4-diaminobutyric acid Blood; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00452 L-Alpha-aminobutyric acid Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB01851 L-Arabitol Blood; CSF; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00168 L-Asparagine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00191 L-Aspartic acid Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00099 L-Cystathionine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00192 L-Cystine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00181 L-Dopa Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00641 L-Glutamine Blood; CSF; Saliva; Urine 9693263 [PubMed ] HMDB00177 L-Histidine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00687 L-Leucine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00162 L-Proline Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00167 L-Threonine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB04628 Lead Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB05949 Lithium Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00547 Magnesium Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB01333 Manganese Blood; CSF; Urine 9720975 [PubMed ] HMDB00765 Mannitol Blood; CSF; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB03625 Mercury Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00202 Methylmalonic acid Blood; CSF; Urine 16227558 [PubMed ] HMDB01302 Molybdenum Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00211 Myoinositol Blood; CSF; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB02457 Nickel Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00214 Ornithine Blood; CSF; Saliva; Urine Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB03933 Pentosidine Blood; CSF Bar KJ, Franke S, Wenda B, Muller S, Kientsch-Engel R, Stein G, Sauer H: Pentosidine and N(epsilon)-(carboxymethyl)-lysine in Alzheimer's disease and vascular dementia. Neurobiol Aging. 2003 Mar-Apr;24(2):333-8. [PubMed ] HMDB01565 Phosphorylcholine Blood; Breast Milk; CSF Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB06695 Prolylhydroxyproline CSF Fonteh AN, Harrington RJ, Tsai A, Liao P, Harrington MG: Free amino acid and dipeptide changes in the body fluids from Alzheimer's disease subjects. Amino Acids. 2007 Feb;32(2):213-24. Epub 2006 Oct 10. [PubMed ] HMDB00508 Ribitol Blood; CSF; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB02175 Silicon Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00247 Sorbitol Blood; CSF; Saliva; Urine Shetty HU, Holloway HW, Schapiro MB: Cerebrospinal fluid and plasma distribution of myo-inositol and other polyols in Alzheimer disease. Clin Chem. 1996 Feb;42(2):298-302. [PubMed ] HMDB03642 Strontium Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB00254 Succinic acid Blood; CSF; Saliva; Urine Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ] HMDB02666 Thiamine monophosphate Blood; CSF Molina JA, Jimenez-Jimenez FJ, Hernanz A, Fernandez-Vivancos E, Medina S, de Bustos F, Gomez-Escalonilla C, Sayed Y: Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease. J Neural Transm. 2002 Jul;109(7-8):1035-44. [PubMed ] HMDB01372 Thiamine pyrophosphate Blood; CSF Molina JA, Jimenez-Jimenez FJ, Hernanz A, Fernandez-Vivancos E, Medina S, de Bustos F, Gomez-Escalonilla C, Sayed Y: Cerebrospinal fluid levels of thiamine in patients with Alzheimer's disease. J Neural Transm. 2002 Jul;109(7-8):1035-44. [PubMed ] HMDB01960 Tin Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB01966 Titanium Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB01989 Tungsten Blood; CSF; Urine Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB02503 Vanadium Blood; CSF Bocca B, Forte G, Petrucci F, Pino A, Marchione F, Bomboi G, Senofonte O, Giubilei F, Alimonti A: Monitoring of chemical elements and oxidative damage in patients affected by Alzheimer's disease. Ann Ist Super Sanita. 2005;41(2):197-203. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine 9720975 [PubMed ]
Aminoacylase I deficiency (OMIM: 609924 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00532 Acetylglycine Blood; Urine Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W: Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2. [PubMed ] A J, Trygg J, Gullberg J, Johansson AI, Jonsson P, Antti H, Marklund SL, Moritz T: Extraction and GC/MS analysis of the human blood plasma metabolome. Anal Chem. 2005 Dec 15;77(24):8086-94. [PubMed ] HMDB02931 N-Acetylserine Urine Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H: Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18. [PubMed ]
Amphetamine psychosis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00819 Normetanephrine Blood; CSF; Urine Yui K, Goto K, Ikemoto S, Ishiguro T: Plasma monoamine metabolites and spontaneous recurrence of methamphetamine-induced paranoid-hallucinatory psychosis: relation of noradrenergic activity to the occurrence of flashbacks. Psychiatry Res. 1996 Jul 31;63(2-3):93-107. [PubMed ]
Amyotrophic lateral sclerosis (OMIM: 105400 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00742 Homocysteine Blood; CSF; Urine Levin J, Botzel K, Giese A, Vogeser M, Lorenzl S: Elevated levels of methylmalonate and homocysteine in Parkinson's disease, progressive supranuclear palsy and amyotrophic lateral sclerosis. Dement Geriatr Cogn Disord. 2010 Jul;29(6):553-9. Epub 2010 Jul 3. [PubMed ] HMDB00667 L-Thyronine Blood; Urine Malin JP, Kodding R, Fuhrmann H, von zur Muhlen A: T4, T3 and rT3 levels in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis. J Neurol. 1989 Jan;236(1):57-9. [PubMed ] HMDB02878 Nitrate Blood; CSF Boll MC, Alcaraz-Zubeldia M, Montes S, Murillo-Bonilla L, Rios C: Raised nitrate concentration and low SOD activity in the CSF of sporadic ALS patients. Neurochem Res. 2003 May;28(5):699-703. [PubMed ] HMDB01220 Prostaglandin E2 Blood; CSF; Urine Almer G, Teismann P, Stevic Z, Halaschek-Wiener J, Deecke L, Kostic V, Przedborski S: Increased levels of the pro-inflammatory prostaglandin PGE2 in CSF from ALS patients. Neurology. 2002 Apr 23;58(8):1277-9. [PubMed ]
Anemia 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00715 Kynurenic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
Anephric patients 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00430 24,25-Dihydroxyvitamin D Blood Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ] HMDB01420 25,26-dihydroxyvitamin D Blood Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ] HMDB01438 25-Hydroxyvitamin D2 Blood; Urine Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ] HMDB03550 Calcidiol Blood; Urine Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ] HMDB00900 Ergocalciferol Blood Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ] HMDB00876 Vitamin D3 Blood Shepard RM, Horst RL, Hamstra AJ, DeLuca HF: Determination of vitamin D and its metabolites in plasma from normal and anephric man. Biochem J. 1979 Jul 15;182(1):55-69. [PubMed ]
Angina 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04242 11-Dehydro-thromboxane B2 Blood; Urine Koike T, Hattori A, Igarashi Y, Matsubara T, Tamura Y, Yamazoe M, Izumi T, Shibata A: [Elevation of 11-dehydro-thromboxane B2 levels in unstable angina] J Cardiol. 1991;21(4):899-904. [PubMed ]
Anorexia nervosa (OMIM: 606788 ) 13 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00526 5a-Tetrahydrocortisol Blood; Urine Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ] HMDB00448 Adipic acid Blood; CSF; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00063 Cortisol Blood; CSF; Saliva; Urine Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ] HMDB00622 Ethylmalonic acid CSF; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB01248 FAD Blood Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB01520 Flavin Mononucleotide Blood Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00661 Glutaric acid Blood; CSF; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00678 Isovalerylglycine Blood; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00265 Liothyronine Blood; Saliva; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00244 Riboflavin Blood; CSF; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00893 Suberic acid Blood; CSF; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ] HMDB00903 Tetrahydrocortisone Blood; Urine Vierhapper H, Kiss A, Nowotny P, Wiesnagrotzki S, Monder C, Waldhausl W: Metabolism of cortisol in anorexia nervosa. Acta Endocrinol (Copenh). 1990 Jun;122(6):753-8. [PubMed ] HMDB00248 Thyroxine Blood; Saliva; Urine Capo-chichi CD, Gueant JL, Lefebvre E, Bennani N, Lorentz E, Vidailhet C, Vidailhet M: Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa. Am J Clin Nutr. 1999 Apr;69(4):672-8. [PubMed ]
Anoxia 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00357 3-Hydroxybutyric acid Blood; Cellular Cytoplasm; CSF; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00060 Acetoacetic acid Blood; Cellular Cytoplasm; CSF; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00193 Isocitric acid Blood; Cellular Cytoplasm; CSF; Semen; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00156 L-Malic acid Blood; Cellular Cytoplasm; CSF; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00223 Oxalacetic acid Cellular Cytoplasm; CSF; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00208 Oxoglutaric acid Blood; Cellular Cytoplasm; CSF; N/A; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ] HMDB00243 Pyruvic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Zupke C, Sinskey AJ, Stephanopoulos G: Intracellular flux analysis applied to the effect of dissolved oxygen on hybridomas. Appl Microbiol Biotechnol. 1995 Dec;44(1-2):27-36. [PubMed ]
Appendicitis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00197 Indoleacetic acid Blood; CSF; Urine Ilkhanizadeh B, Owji AA, Tavangar SM, Vasei M, Tabei SM: Spot urine 5-hydroxy indole acetic acid and acute appendicitis. Hepatogastroenterology. 2001 May-Jun;48(39):609-13. [PubMed ]
Argininemia (OMIM: 207800 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00052 Argininosuccinic acid Blood; Urine Metagene: ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY HMDB00517 L-Arginine Blood; CSF; Urine Metagene: ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY HMDB00300 Uracil Amniotic Fluid; Blood; CSF; Urine Metagene: ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY [PubMed ]
Argininosuccinic aciduria (OMIM: 207900 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Metagene: ARGININOSUCCINIC ACIDURIA (ASL) HMDB00904 Citrulline Blood; CSF; Urine Metagene: ARGININOSUCCINIC ACIDURIA (ASL)
Aromatic L-amino acid decarboxylase deficiency (OMIM: 107930 ) 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01434 3-Methoxytyrosine Blood; CSF; Urine 1357595 [PubMed ] [PubMed ] HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB00073 Dopamine Blood; CSF; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB00866 N-Acetyl-L-tyrosine Blood; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB11716 N-Acetylvanilalanine Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB00291 Vanillylmandelic acid Blood; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB11714 Vanilpyruvic acid Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Abdenur JE, Abeling N, Specola N, Jorge L, Schenone AB, van Cruchten AC, Chamoles NA: Aromatic l-aminoacid decarboxylase deficiency: unusual neonatal presentation and additional findings in organic acid analysis. Mol Genet Metab. 2006 Jan;87(1):48-53. Epub 2005 Nov 9. [PubMed ]
Aspartylglucosaminuria (OMIM: 208400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00489 Aspartylglycosamine Urine Metagene: ASPARTYLGLUCOSAMINURIA
Asthma (OMIM: 600807 ) 13 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02123 1,3,7-Trimethyluric acid Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB01857 1,3-Dimethyluric acid Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB11103 1,7-Dimethyluric acid Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB10738 1-Methylxanthine Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB10199 11b-PGF2a Blood; Urine Mai XM, Bottcher MF, Bruhammar M, Nilsson L, Zetterstrom O: Urinary inflammatory mediators and inhalation of hypertonic saline in children. Allergy. 2005 Jan;60(1):60-4. [PubMed ] HMDB01885 3-Chlorotyrosine Blood; Urine Mita H, Higashi N, Taniguchi M, Higashi A, Kawagishi Y, Akiyama K: Urinary 3-bromotyrosine and 3-chlorotyrosine concentrations in asthmatic patients: lack of increase in 3-bromotyrosine concentration in urine and plasma proteins in aspirin-induced asthma after intravenous aspirin challenge. Clin Exp Allergy. 2004 Jun;34(6):931-8. [PubMed ] HMDB01886 3-Methylxanthine Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB11134 5-HETE Blood; CSF Chavis C, Fraissinet L, Chanez P, Thomas E, Bousquet J: A method for the measurement of plasma hydroxyeicosatetraenoic acid levels. Anal Biochem. 1999 Jun 15;271(1):105-8. [PubMed ] HMDB01991 7-Methylxanthine Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB01847 Caffeine Blood; CSF; Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB01860 Paraxanthine Blood; CSF; Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB02825 Theobromine Blood; CSF; Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ] HMDB01889 Theophylline Blood; CSF; Urine Zydron M, Baranowski J, Baranowska I: Separation, pre-concentration, and HPLC analysis of methylxanthines in urine samples. J Sep Sci. 2004 Oct;27(14):1166-72. [PubMed ]
Athyreosis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00021 Iodotyrosine Blood Tan SA, Lewis JE, Berk LS, Wilcox RB: Extrathyroidal physiology of monoiodotyrosine in humans. Clin Physiol Biochem. 1990;8(3):109-15. [PubMed ]
Autism (OMIM: 209850 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02643 3-(3-hydroxyphenyl)-3-hydroxypropanoic acid Urine Shaw W: Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), an abnormal phenylalanine metabolite of Clostridia spp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia. Nutr Neurosci. 2010 Jun;13(3):135-43. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Narayan M, Srinath S, Anderson GM, Meundi DB: Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism. Biol Psychiatry. 1993 Apr 15-May 1;33(8-9):630-5. [PubMed ] HMDB00099 L-Cystathionine Blood; CSF; Urine James SJ, Cutler P, Melnyk S, Jernigan S, Janak L, Gaylor DW, Neubrander JA: Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr. 2004 Dec;80(6):1611-7. [PubMed ] HMDB00912 Succinyladenosine Blood; CSF Jaeken J, Van den Berghe G: An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet. 1984 Nov 10;2(8411):1058-61. [PubMed ]
Autosomal dominant polycystic kidney disease (OMIM: 601313 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04667 13S-hydroxyoctadecadienoic acid Blood; CSF; Urine Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ] HMDB01539 Dimethyl-L-arginine Blood; CSF; Urine Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ] HMDB03334 Symmetric dimethylarginine Blood; Urine Wang D, Strandgaard S, Borresen ML, Luo Z, Connors SG, Yan Q, Wilcox CS: Asymmetric dimethylarginine and lipid peroxidation products in early autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2008 Feb;51(2):184-91. [PubMed ]
Bacterial infections 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ]
Bacterial meningitis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Peng F, Zhang B, Zhong X, Li J, Xu G, Hu X, Qiu W, Pei Z: Serum uric acid levels of patients with multiple sclerosis and other neurological diseases. Mult Scler. 2008 Mar;14(2):188-96. Epub 2007 Oct 17. [PubMed ]
Benign gynecological diseases 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Murakami K, Nakagawa T, Shozu M, Uchide K, Koike K, Inoue M: Changes with aging of steroidal levels in the cerebrospinal fluid of women. Maturitas. 1999 Sep 24;33(1):71-80. [PubMed ] HMDB00151 Estradiol Blood; CSF; Saliva; Urine Murakami K, Nakagawa T, Shozu M, Uchide K, Koike K, Inoue M: Changes with aging of steroidal levels in the cerebrospinal fluid of women. Maturitas. 1999 Sep 24;33(1):71-80. [PubMed ]
Benign prostatic hyperplasia (OMIM: 600082 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00031 Androsterone Blood; CSF; N/A; Urine Hammond GL: Endogenous steroid levels in the human prostate from birth to old age: a comparison of normal and diseased tissues. J Endocrinol. 1978 Jul;78(1):7-19. [PubMed ]
Benzene exposure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB02349 trans-trans-Muconic acid Urine Chanvaivit S, Navasumrit P, Hunsonti P, Autrup H, Ruchirawat M: Exposure assessment of benzene in Thai workers, DNA-repair capacity and influence of genetic polymorphisms. Mutat Res. 2007 Jan 10;626(1-2):79-87. Epub 2006 Nov 13. [PubMed ]
Beta-ketothiolase deficiency 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00354 2-Methyl-3-hydroxybutyric acid Urine Metagene: BETA-KETOTHIOLASE DEFICIENCY HMDB03771 2-Methylacetoacetic acid Urine Metagene: BETA-KETOTHIOLASE DEFICIENCY HMDB00959 Tiglylglycine Urine Metagene: BETA-KETOTHIOLASE DEFICIENCY
Beta-thalassemia (OMIM: 141900 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB10316 Acetaminophen glucuronide Blood Tankanitlert J, Howard TA, Temsakulphong A, Sirankapracha P, Morales NP, Sanvarinda Y, Fucharoen P, Ware RE, Fucharoen S, Chantharaksri U: A pharmacokinetic study of paracetamol in Thai beta-thalassemia/HbE patients. Eur J Clin Pharmacol. 2006 Sep;62(9):743-8. Epub 2006 Jul 15. [PubMed ] HMDB01060 Ubiquinol 8 Blood De Luca C, Filosa A, Grandinetti M, Maggio F, Lamba M, Passi S: Blood antioxidant status and urinary levels of catecholamine metabolites in beta-thalassemia. Free Radic Res. 1999 Jun;30(6):453-62. [PubMed ]
Beta-ureidopropionase deficiency (OMIM: 613161 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00079 Dihydrothymine CSF; Urine van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ] HMDB00262 Thymine Blood; CSF; Urine van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ] HMDB02031 Ureidoisobutyric acid CSF; Urine van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH: beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. Epub 2004 Sep 22. [PubMed ]
Biliary atresia (OMIM: 210500 ) 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00518 Chenodeoxycholic acid Bile; Blood; Urine 16553252 [PubMed ] HMDB00637 Chenodeoxycholic acid glycine conjugate Bile; Blood; Urine Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ] HMDB00619 Cholic acid Bile; Blood; Urine 16553252 [PubMed ] HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ] HMDB00115 Glycolic acid Blood; CSF; Urine Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ] HMDB02061 Hyaluronic acid Blood; CSF Ukarapol N, Wongsawasdi L, Ong-Chai S, Riddhiputra P, Kongtawelert P: Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. Pediatr Int. 2007 Oct;49(5):608-11. [PubMed ] HMDB00761 Lithocholic acid Bile; Blood; Urine Gustafsson J, Alvelius G, Bjorkhem I, Nemeth A: Bile acid metabolism in extrahepatic biliary atresia: lithocholic acid in stored dried blood collected at neonatal screening. Ups J Med Sci. 2006;111(1):131-6. [PubMed ] HMDB00951 Taurochenodesoxycholic acid Bile; Blood; Urine Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ] HMDB00036 Taurocholic acid Bile; Blood; Urine Nittono H, Obinata K, Nakatsu N, Watanabe T, Niijima S, Sasaki H, Arisaka O, Kato H, Yabuta K, Miyano T: Sulfated and nonsulfated bile acids in urine of patients with biliary atresia: analysis of bile acids by high-performance liquid chromatography. J Pediatr Gastroenterol Nutr. 1986 Jan;5(1):23-9. [PubMed ]
Biotinidase deficiency (OMIM: 253260 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00379 2-Methylcitric acid Blood; CSF; Urine Metagene: BIOTINIDASE DEFICIENCY HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Metagene: BIOTINIDASE DEFICIENCY HMDB00459 3-Methylcrotonylglycine Urine Metagene: BIOTINIDASE DEFICIENCY HMDB00700 Hydroxypropionic acid Blood; CSF; Urine Metagene: BIOTINIDASE DEFICIENCY
Bipolar disorder (OMIM: 125480 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7. [PubMed ]
Bladder infections 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02039 2-Pyrrolidinone Blood Tricker AR, Pfundstein B, Kalble T, Preussmann R: Secondary amine precursors to nitrosamines in human saliva, gastric juice, blood, urine and faeces. Carcinogenesis. 1992 Apr;13(4):563-8. [PubMed ] HMDB00087 Dimethylamine Blood; CSF; Saliva; Urine Tricker AR, Pfundstein B, Kalble T, Preussmann R: Secondary amine precursors to nitrosamines in human saliva, gastric juice, blood, urine and faeces. Carcinogenesis. 1992 Apr;13(4):563-8. [PubMed ]
Bone metastases 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00452 L-Alpha-aminobutyric acid Blood; CSF; Urine Tsuruta Y, Matsumoto M, Inoue H, Munemura S, Yamano S, Iguchi H: Determination of N-ethylglycine in urine of cancer patients with metastatic bone disease by HPLC using 4-(5,6-dimethoxy-2-phthalimidinyl)-2-methoxyphenylsulfonyl chloride as a fluorescent labeling reagent. Anal Sci. 2008 Dec;24(12):1629-31. [PubMed ]
Brain tumors 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00582 3,5-Diiodothyronine Blood; Urine Pinna G, Meinhold H, Hiedra L, Thoma R, Hoell T, Graf KJ, Stoltenburg-Didinger G, Eravci M, Prengel H, Brodel O, Finke R, Baumgartner A: Elevated 3,5-diiodothyronine concentrations in the sera of patients with nonthyroidal illnesses and brain tumors. J Clin Endocrinol Metab. 1997 May;82(5):1535-42. [PubMed ] HMDB03252 Thromboxane B2 Blood; CSF; Urine Walker V, Pickard JD, Smythe PJ, Perry S: Eicosanoid production by brain tumours in vivo--evidence for intracranial compartmentation. J Neurooncol. 1991 Dec;11(3):259-62. [PubMed ]
Cachexia 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Cachexia studies HMDB00211 Myoinositol Blood; CSF; Urine HMDB00906 Trimethylamine Blood; CSF; Saliva; Urine R. Eisner, C. Stretch, T. Eastman, J. Xia, D. Hau, S. Damaraju, R. Greiner, D.S. Wishart, V.E. Baracos, "Learning to predict cancer-associated skeletal muscle wasting from 1H-NMR profiles of urinary metabolites," Metabolomics 7 (2011) 25-34. HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Doehner W, Rauchhaus M, Florea VG, Sharma R, Bolger AP, Davos CH, Coats AJ, Anker SD: Uric acid in cachectic and noncachectic patients with chronic heart failure: relationship to leg vascular resistance. Am Heart J. 2001 May;141(5):792-9. [PubMed ]
Cadmium exposure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00234 Testosterone Blood; CSF; Saliva; Urine Zeng X, Lin T, Zhou Y, Kong Q: Alterations of serum hormone levels in male workers occupationally exposed to cadmium. J Toxicol Environ Health A. 2002 Apr 12;65(7):513-21. [PubMed ]
Canavan disease (OMIM: 271900 ) 20 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03099 1-Methyluric acid Amniotic Fluid; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB11600 3-Methyladenine Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00044 Ascorbic acid Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00094 Citric acid Blood; CSF; Urine Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ] HMDB00562 Creatinine Amniotic Fluid; Blood; CSF; Saliva; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00089 Cytidine Blood; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00125 Glutathione Blood; Cellular Cytoplasm; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00157 Hypoxanthine Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00812 N-Acetyl-L-aspartic acid Blood; CSF; Urine 2375630 [PubMed ] HMDB01067 N-Acetylaspartylglutamic acid Blood; CSF; Urine Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB: N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr. 1999 May;158(5):406-9. [PubMed ] HMDB00226 Orotic acid Amniotic Fluid; Blood; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB03337 Oxidized glutathione Blood; CSF Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00767 Pseudouridine Amniotic Fluid; Blood; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00254 Succinic acid Blood; CSF; Saliva; Urine Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ] HMDB00273 Thymidine Amniotic Fluid; Blood; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00300 Uracil Amniotic Fluid; Blood; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00296 Uridine Blood; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ] HMDB00292 Xanthine Blood; CSF; Urine Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B: Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem. 2005 Nov;38(11):997-1008. Epub 2005 Sep 1. [PubMed ]
Carbamoyl Phosphate Synthetase Deficiency (OMIM: 237300 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Metagene: CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) HMDB00641 L-Glutamine Blood; CSF; Saliva; Urine Metagene: CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Metagene: CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS) HMDB00300 Uracil Amniotic Fluid; Blood; CSF; Urine Metagene: CARBAMOYL PHOSPHATE SYNTHETASE DEFICIENCY (CPS)
Cardiac arrest 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01139 Prostaglandin F2a Blood; CSF; Urine Strohmenger HU, Lindner KH, Keller A, Lindner IM, Bothner U, Georgieff M: Concentrations of prolactin and prostaglandins during and after cardiopulmonary resuscitation. Crit Care Med. 1995 Aug;23(8):1347-55. [PubMed ]
Cardiopulmonary bypass 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01085 Leukotriene B4 Blood; CSF; Urine Pearl JM, Manning PB, McNamara JL, Saucier MM, Thomas DW: Effect of modified ultrafiltration on plasma thromboxane B2, leukotriene B4, and endothelin-1 in infants undergoing cardiopulmonary bypass. Ann Thorac Surg. 1999 Oct;68(4):1369-75. [PubMed ]
Cardiopulmonary resuscitation 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB02886 6-Keto-prostaglandin F1a Blood; CSF; Urine Strohmenger HU, Lindner KH, Keller A, Lindner IM, Bothner U, Georgieff M: Concentrations of prolactin and prostaglandins during and after cardiopulmonary resuscitation. Crit Care Med. 1995 Aug;23(8):1347-55. [PubMed ]
Carnitine-acylcarnitine translocase deficiency (OMIM: 212138 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00792 Sebacic acid Urine Metagene: CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
Carnosinuria (OMIM: 212200 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00033 Carnosine Blood; CSF; Urine 2674258 http://www.metagene.de/program/d.prg?mp=CARNOSINURIA
Celiac disease (OMIM: 212750 ) 12 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02013 Butyrylcarnitine Blood; CSF Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00651 Decanoylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB02250 Dodecanoylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00138 Glycocholic acid Blood; Urine Spiller RC, Frost PF, Stewart JS, Bloom SR, Silk DB: Delayed postprandial plasma bile acid response in coeliac patients with slow mouth-caecum transit. Clin Sci (Lond). 1987 Feb;72(2):217-23. [PubMed ] HMDB00688 Isovalerylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00756 L-Hexanoylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00791 L-Octanoylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00222 L-Palmitoylcarnitine Blood; Urine Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00740 Lactulose Blood Cox MA, Lewis KO, Cooper BT: Measurement of small intestinal permeability markers, lactulose, and mannitol in serum: results in celiac disease. Dig Dis Sci. 1999 Feb;44(2):402-6. [PubMed ] HMDB00824 Propionylcarnitine Blood; CSF Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB00848 Stearoylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ] HMDB02366 Tiglylcarnitine Blood Bene J, Komlosi K, Gasztonyi B, Juhasz M, Tulassay Z, Melegh B: Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World J Gastroenterol. 2005 Nov 14;11(42):6671-5. [PubMed ]
Cerebral vasospasm 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB06111 12-HETE Blood; CSF; Urine Poloyac SM, Reynolds RB, Yonas H, Kerr ME: Identification and quantification of the hydroxyeicosatetraenoic acids, 20-HETE and 12-HETE, in the cerebrospinal fluid after subarachnoid hemorrhage. J Neurosci Methods. 2005 Jun 15;144(2):257-63. Epub 2004 Dec 30. [PubMed ] HMDB05998 20-Hydroxyeicosatetraenoic acid Blood; CSF; Urine Poloyac SM, Reynolds RB, Yonas H, Kerr ME: Identification and quantification of the hydroxyeicosatetraenoic acids, 20-HETE and 12-HETE, in the cerebrospinal fluid after subarachnoid hemorrhage. J Neurosci Methods. 2005 Jun 15;144(2):257-63. Epub 2004 Dec 30. [PubMed ] HMDB00054 Bilirubin Bile; Blood; CSF; Urine Pyne-Geithman GJ, Morgan CJ, Wagner K, Dulaney EM, Carrozzella J, Kanter DS, Zuccarello M, Clark JF: Bilirubin production and oxidation in CSF of patients with cerebral vasospasm after subarachnoid hemorrhage. J Cereb Blood Flow Metab. 2005 Aug;25(8):1070-7. [PubMed ]
Cerebrocortical degeneration 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01372 Thiamine pyrophosphate Blood; CSF Holtershinken M, Hohling A, Witte B, Scholz H: [Thiamine and its derivates in cattle blood measured by HPLC in healthy animals, in patients suffering from CCN and in their cohorts] Dtsch Tierarztl Wochenschr. 2007 Jun;114(6):212-8. [PubMed ]
Cerebrotendinous xanthomatosis (OMIM: 213700 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00908 5alpha-Cholestanol Blood Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ] HMDB01170 Lathosterol Blood Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ]
Cervical cancer (OMIM: 603956 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
Cervical myelopathy 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00108 Ethanol Blood; CSF; Saliva; Urine Meshitsuka S, Morio Y, Nagashima H, Teshima R: 1H-NMR studies of cerebrospinal fluid: endogenous ethanol in patients with cervical myelopathy. Clin Chim Acta. 2001 Oct;312(1-2):25-30. [PubMed ]
Cholangiocarcinoma 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
Choledochal cysts 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Cholelithiasis (OMIM: 600803 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Miettinen TE, Kesaniemi YA, Gylling H, Jarvinen H, Silvennoinen E, Miettinen TA: Noncholesterol sterols in bile and stones of patients with cholesterol and pigment stones. Hepatology. 1996 Feb;23(2):274-80. [PubMed ]
Cholesteryl ester storage disease (OMIM: 278000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Metagene: CHOLESTERYL ESTER STORAGE DISEASE
Chronic active hepatitis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
chronic infections 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB13471 LPS core Blood Wiedermann CJ, Kiechl S, Dunzendorfer S, Schratzberger P, Egger G, Oberhollenzer F, Willeit J: Association of endotoxemia with carotid atherosclerosis and cardiovascular disease: prospective results from the Bruneck Study. J Am Coll Cardiol. 1999 Dec;34(7):1975-81. [PubMed ]
Chronic kidney disease 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03474 3,5-Diiodo-L-tyrosine Blood; Urine Ramsden DB, Farmer M, Mohammed MN, McGonigle RS, Sheppard MC: 3,5-Diiodotyrosine and thyronine in the urine of patients with chronic renal disease. Clin Endocrinol (Oxf). 1986 May;24(5):491-5. [PubMed ] HMDB00667 L-Thyronine Blood; Urine Ramsden DB, Farmer M, Mohammed MN, McGonigle RS, Sheppard MC: 3,5-Diiodotyrosine and thyronine in the urine of patients with chronic renal disease. Clin Endocrinol (Oxf). 1986 May;24(5):491-5. [PubMed ]
Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome (OMIM: 530000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Metagene: CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA AND KEARNS-SAYRE SYNDROM
Chronic renal failure 11 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00043 Betaine Blood; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB00562 Creatinine Amniotic Fluid; Blood; CSF; Saliva; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB00058 Cyclic AMP Blood; CSF; Urine Dimitrakov D, Kumchev E, Lyutakova E, Ledzhev I, Nikolov D, Tsekov V: Cyclic adenosine monophosphate (cAMP) levels in predialysis patients with chronic renal failure. Folia Med (Plovdiv). 1997;39(1):29-33. [PubMed ] HMDB01842 Guanidine Blood; CSF; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB03157 Guanidinosuccinic acid Blood; Cellular Cytoplasm; CSF; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB00128 Guanidoacetic acid Blood; Cellular Cytoplasm; CSF; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB04068 Melanin Blood Hegedus ZL, Frank HA, Steinman TI, Altschule MD, Nayak U: Elevated levels of plasma lipofuscins in patients with chronic renal failure. Arch Int Physiol Biochim. 1988 Dec;96(5):211-21. [PubMed ] HMDB01522 Methylguanidine Blood; CSF; Saliva; Urine Kikuchi T, Orita Y, Ando A, Mikami H, Fujii M, Okada A, Abe H: Liquid-chromatographic determination of guanidino compounds in plasma and erythrocyte of normal persons and uremic patients. Clin Chem. 1981 Nov;27(11):1899-902. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
Cirrhosis 25 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03156 2,3-Butanediol Blood Casazza JP, Frietas J, Stambuk D, Morgan MY, Veech RL: The measurement of 1,2-propanediol, D, L-2,3-butanediol and meso-2,3-butanediol in controls and alcoholic cirrhotics. Alcohol Alcohol Suppl. 1987;1:607-9. [PubMed ] HMDB01065 2-Hydroxyphenethylamine Blood; Urine Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ] HMDB04225 2-Oxoarginine Blood; CSF Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB00582 3,5-Diiodothyronine Blood; Urine Pinna G, Meinhold H, Hiedra L, Thoma R, Hoell T, Graf KJ, Stoltenburg-Didinger G, Eravci M, Prengel H, Brodel O, Finke R, Baumgartner A: Elevated 3,5-diiodothyronine concentrations in the sera of patients with nonthyroidal illnesses and brain tumors. J Clin Endocrinol Metab. 1997 May;82(5):1535-42. [PubMed ] HMDB01527 3-Methylthiopropionic acid Urine Yoshida Y: [Analysis of methionine metabolism studied by the gas chromatographic determination of 3-methylthiopropionate in urine and its clinical application] Hokkaido Igaku Zasshi. 1985 Mar;60(2):183-94. [PubMed ] HMDB03464 4-Guanidinobutanoic acid Blood; CSF; Urine 7752905 [PubMed ] HMDB00908 5alpha-Cholestanol Blood Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ] HMDB01496 7a-Hydroxycholesterol Blood; CSF Hahn C, Reichel C, von Bergmann K: Serum concentration of 7 alpha-hydroxycholesterol as an indicator of bile acid synthesis in humans. J Lipid Res. 1995 Sep;36(9):2059-66. [PubMed ] HMDB03148 Argininic acid Blood Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB00653 Cholesterol sulfate Blood Tamasawa N, Tamasawa A, Takebe K: Higher levels of plasma cholesterol sulfate in patients with liver cirrhosis and hypercholesterolemia. Lipids. 1993 Sep;28(9):833-6. [PubMed ] HMDB00619 Cholic acid Bile; Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00064 Creatine Blood; CSF; Urine Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB01045 Enkephalin L Blood Thornton JR, Losowsky MS: Plasma leucine enkephalin is increased in liver disease. Gut. 1989 Oct;30(10):1392-5. [PubMed ] HMDB01842 Guanidine Blood; CSF; Urine Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB03157 Guanidinosuccinic acid Blood; Cellular Cytoplasm; CSF; Urine Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB00670 Homo-L-arginine Blood; CSF; Urine Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ] HMDB00191 L-Aspartic acid Blood; CSF; Saliva; Urine Cynober LA: Plasma amino acid levels with a note on membrane transport: characteristics, regulation, and metabolic significance. Nutrition. 2002 Sep;18(9):761-6. [PubMed ] HMDB01170 Lathosterol Blood Halperin G, Elisaf M, Leitersdorf E, Harats D: A new method for determination of serum cholestanol by high-performance liquid chromatography with ultraviolet detection. J Chromatogr B Biomed Sci Appl. 2000 Jun 9;742(2):345-52. [PubMed ] HMDB00673 Linoleic acid Blood; CSF; Urine Szebeni J, Eskelson C, Sampliner R, Hartmann B, Griffin J, Dormandy T, Watson RR: Plasma fatty acid pattern including diene-conjugated linoleic acid in ethanol users and patients with ethanol-related liver disease. Alcohol Clin Exp Res. 1986 Dec;10(6):647-50. [PubMed ] HMDB03227 Methanethiol Blood McClain CJ, Zieve L, Doizaki WM, Gilberstadt S, Onstad GR: Blood methanethiol in alcoholic liver disease with and without hepatic encephalopathy. Gut. 1980 Apr;21(4):318-23. [PubMed ] HMDB04825 p-Octopamine Blood; Urine Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ] HMDB01881 Propylene glycol Blood; CSF; Saliva; Urine Casazza JP, Frietas J, Stambuk D, Morgan MY, Veech RL: The measurement of 1,2-propanediol, D, L-2,3-butanediol and meso-2,3-butanediol in controls and alcoholic cirrhotics. Alcohol Alcohol Suppl. 1987;1:607-9. [PubMed ] HMDB02639 Sulfolithocholylglycine Blood; Urine Kobayashi N, Katsumata H, Uto Y, Goto J, Niwa T, Kobayashi K, Mizuuchi Y: A monoclonal antibody-based enzyme-linked immunosorbent assay of glycolithocholic acid sulfate in human urine for liver function test. Steroids. 2002 Sep;67(10):827-33. [PubMed ] HMDB00306 Tyramine Blood; Urine Yonekura T, Kamata S, Wasa M, Okada A, Yamatodani A, Watanabe T, Wada H: Simultaneous determination of plasma phenethylamine, phenylethanolamine, tyramine and octopamine by high-performance liquid chromatography using derivatization with fluorescamine. J Chromatogr. 1988 Jun 3;427(2):320-5. [PubMed ] HMDB00294 Urea Blood; Cellular Cytoplasm; CSF; Urine Marescau B, De Deyn PP, Holvoet J, Possemiers I, Nagels G, Saxena V, Mahler C: Guanidino compounds in serum and urine of cirrhotic patients. Metabolism. 1995 May;44(5):584-8. [PubMed ]
Citrullinemia type I (OMIM: 215700 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Metagene: CITRULLINEMIA TYPE I
CNS infections 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00684 L-Kynurenine Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00845 Neopterin Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
CNS tumors 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00684 L-Kynurenine Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00845 Neopterin Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
Cobalamin malabsorption 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03429 Cob(I)alamin Blood Metagene: COBALAMIN MALABSORPTION HMDB00202 Methylmalonic acid Blood; CSF; Urine Metagene: COBALAMIN MALABSORPTION
Cognitive disorders 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01490 Vanylglycol Blood; CSF; Urine Hildebrand J, Bourgeois F, Buyse M, Przedborski S, Goldman S: Reproducibility of monoamine metabolite measurements in human cerebrospinal fluid. Acta Neurol Scand. 1990 May;81(5):427-30. [PubMed ]
Colitis (OMIM: 191390 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04866 Lactosylceramide (d18:1/12:0) Blood Stevens CR, Oberholzer VG, Walker-Smith JA, Phillips AD: Lactosylceramide in inflammatory bowel disease: a biochemical study. Gut. 1988 May;29(5):580-7. [PubMed ]
Colorectal cancer (OMIM: 114500 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ]
Congenital adrenal hyperplasia (OMIM: 201910 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00315 16-a-Hydroxypregnenolone Blood; Urine Homoki J, Teller WM: Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Klin Wochenschr. 1982 Apr 15;60(8):407-10. [PubMed ] HMDB04030 21-Deoxycortisol Blood Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J: Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007 Jul;92(7):2581-9. Epub 2007 Apr 24. [PubMed ]
Continuous ambulatory peritoneal dialysis 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00043 Betaine Blood; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB00870 Histamine Blood; CSF; Urine Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
Convulsion 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00715 Kynurenic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ]
Coronary artery disease 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Fazekas L, Horkay F, Kekesi V, Huszar E, Barat E, Fazekas R, Szabo T, Juhasz-Nagy A, Naszlady A: Enhanced accumulation of pericardial fluid adenosine and inosine in patients with coronary artery disease. Life Sci. 1999;65(10):1005-12. [PubMed ] HMDB04385 Lipoxin A4 Blood Brezinski DA, Nesto RW, Serhan CN: Angioplasty triggers intracoronary leukotrienes and lipoxin A4. Impact of aspirin therapy. Circulation. 1992 Jul;86(1):56-63. [PubMed ]
Coronary heart disease 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03125 Hydrogen peroxide Blood Kazmierczak M, Wysocki H, Wykretowicz A, Minczykowski A: Estimation of hydrogen peroxide plasma levels in patients evaluated for coronary heart disease using dipyridamole infusion followed by SPECT. Coron Artery Dis. 1995 Jan;6(1):65-9. [PubMed ] HMDB01452 Thromboxane A2 Blood; CSF; Urine Akimova EV: Prostacyclin and thromboxane A2 levels in children and adolescents with an inherited predisposition to coronary heart disease: a family study. Coron Artery Dis. 1994 Sep;5(9):761-5. [PubMed ]
Cortical myoclonus 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01490 Vanylglycol Blood; CSF; Urine Leuzzi V, Di Sabato ML, Zollino M, Montanaro ML, Seri S: Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. Neurology. 2004 Nov 23;63(10):1968-70. [PubMed ]
Cresol poisoning IBS 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02048 m-Cresol Blood; Urine Monma-Ohtaki J, Maeno Y, Nagao M, Iwasa M, Koyama H, Isobe I, Seko-Nakamura Y, Tsuchimochi T, Matsumoto T: An autopsy case of poisoning by massive absorption of cresol a short time before death. Forensic Sci Int. 2002 Mar 28;126(1):77-81. [PubMed ] HMDB02055 o-Cresol Blood Boatto G, Nieddu M, Carta A, Pau A, Lorenzoni S, Manconi P, Serra D: Determination of phenol and o-cresol by GC/MS in a fatal poisoning case. Forensic Sci Int. 2004 Jan 28;139(2-3):191-4. [PubMed ]
Creutzfeldt-Jakob disease (OMIM: 123400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00742 Homocysteine Blood; CSF; Urine 15711082 [PubMed ]
Crigler-Najjar syndrome type I (OMIM: 218800 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00054 Bilirubin Bile; Blood; CSF; Urine Metagene: CRIGLER-NAJJAR SYNDROME TYPE I
Critical illnesses 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Jabs CM, Sigurdsson GH, Neglen P: Plasma levels of high-energy compounds compared with severity of illness in critically ill patients in the intensive care unit. Surgery. 1998 Jul;124(1):65-72. [PubMed ]
Crohn's disease (OMIM: 266600 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00054 Bilirubin Bile; Blood; CSF; Urine Lapidus A, Akerlund JE, Einarsson C: Gallbladder bile composition in patients with Crohn 's disease. World J Gastroenterol. 2006 Jan 7;12(1):70-4. [PubMed ] HMDB00098 D-Xylose Blood; Urine Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ]
Cushing's Syndrome 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03955 19-Hydroxyandrost-4-ene-3,17-dione Blood Mune T, Morita H, Yasuda K, Murayama M, Yamakita N, Miura K: Elevated plasma 19-hydroxyandrostenedione levels in Cushing's disease: stimulation with ACTH and inhibition with metyrapone. Clin Endocrinol (Oxf). 1993 Mar;38(3):265-72. [PubMed ] HMDB00053 Androstenedione Blood; CSF; Urine Mune T, Morita H, Yasuda K, Murayama M, Yamakita N, Miura K: Elevated plasma 19-hydroxyandrostenedione levels in Cushing's disease: stimulation with ACTH and inhibition with metyrapone. Clin Endocrinol (Oxf). 1993 Mar;38(3):265-72. [PubMed ]
Cystathioninuria (OMIM: 219500 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00099 L-Cystathionine Blood; CSF; Urine 1429979 [PubMed ] HMDB02381 N-Acetylcystathionine Urine Metagene: gamma-CYSTATHIONASE DEFICIENCY (CTH)
Cystic fibrosis (OMIM: 219700 ) 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00518 Chenodeoxycholic acid Bile; Blood; Urine Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ] HMDB00619 Cholic acid Bile; Blood; Urine Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ] HMDB00626 Deoxycholic acid Bile; Blood; Urine Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ] HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ] HMDB00761 Lithocholic acid Bile; Blood; Urine Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ] HMDB00946 Ursodeoxycholic acid Blood; Urine Smith JL, Lewindon PJ, Hoskins AC, Pereira TN, Setchell KD, O'Connell NC, Shepherd RW, Ramm GA: Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis. Hepatology. 2004 Jun;39(6):1673-82. [PubMed ]
Cystinosis (OMIM: 219750 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Metagene: CYSTINOSIS
Cystinuria (OMIM: 220100 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00517 L-Arginine Blood; CSF; Urine Metagene: CYSTINURIA HMDB00192 L-Cystine Blood; CSF; Urine 8890399 http://www.metagene.de/program/d.prg?mp=CYSTINURIA HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Metagene: CYSTINURIA HMDB00214 Ornithine Blood; CSF; Saliva; Urine Metagene: CYSTINURIA
Cytochrome C oxidase deficiency (OMIM: 220110 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Metagene: CYTOCHROME-C-OXIDASE DEFICIENCY HMDB00765 Mannitol Blood; CSF; Urine Shetty HU, Holloway HW, Rapoport SI: Capillary gas chromatography combined with ion trap detection for quantitative profiling of polyols in cerebrospinal fluid and plasma. Anal Biochem. 1995 Jan 1;224(1):279-85. [PubMed ]
D-2-hydroxyglutaric aciduria (OMIM: 600721 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00606 D-2-Hydroxyglutaric acid Blood; CSF; Urine 8134166 [PubMed ]
D-Glyceric acidemia (OMIM: 605899 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00139 Glyceric acid Blood; CSF; N/A; Urine Metagene: D-GLYCERIC ACIDURA HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine 8888048 [PubMed ]
Degenerative disc disease 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00157 Hypoxanthine Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ] HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ] HMDB00273 Thymidine Amniotic Fluid; Blood; CSF; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ] HMDB00296 Uridine Blood; CSF; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ] HMDB00292 Xanthine Blood; CSF; Urine Eells JT, Spector R: Purine and pyrimidine base and nucleoside concentrations in human cerebrospinal fluid and plasma. Neurochem Res. 1983 Nov;8(11):1451-7. [PubMed ]
Dementia (OMIM: 167320 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00742 Homocysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB04207 L-a-glutamyl-L-Lysine CSF Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ] HMDB00574 L-Cysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Redjems-Bennani N, Jeandel C, Lefebvre E, Blain H, Vidailhet M, Gueant JL: Abnormal substrate levels that depend upon mitochondrial function in cerebrospinal fluid from Alzheimer patients. Gerontology. 1998;44(5):300-4. [PubMed ]
Demyelinating polyneuropathy 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
Dengue fever 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ] HMDB00177 L-Histidine Blood; CSF; Saliva; Urine Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Klassen P, Furst P, Schulz C, Mazariegos M, Solomons NW: Plasma free amino acid concentrations in healthy Guatemalan adults and in patients with classic dengue. Am J Clin Nutr. 2001 Mar;73(3):647-52. [PubMed ]
Depersonalization disorder 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01547 Corticosterone Blood Nuller YL, Morozova MG, Kushnir ON, Hamper N: Effect of naloxone therapy on depersonalization: a pilot study. J Psychopharmacol. 2001 Jun;15(2):93-5. [PubMed ] HMDB02802 Cortisone Blood; Urine Nuller YL, Morozova MG, Kushnir ON, Hamper N: Effect of naloxone therapy on depersonalization: a pilot study. J Psychopharmacol. 2001 Jun;15(2):93-5. [PubMed ]
Dermal fibroproliferative disorder 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00898 1-Methylhistamine Blood; CSF; Urine Tredget EE, Iwashina T, Scott PG, Ghahary A: Determination of plasma Ntau-methylhistamine in vivo by isotope dilution using benchtop gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 1997 Jun 20;694(1):1-9. [PubMed ]
Diabetes mellitus type 1 (OMIM: 222100 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8. [PubMed ]
Diabetes mellitus type 2 (OMIM: 125853 ) 27 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00011 (R)-3-Hydroxybutyric acid Blood; CSF; Urine 18184896 [PubMed ] [PubMed ] HMDB00336 (R)-3-Hydroxyisobutyric acid Blood; CSF Avogaro A, Bier DM: Contribution of 3-hydroxyisobutyrate to the measurement of 3-hydroxybutyrate in human plasma: comparison of enzymatic and gas-liquid chromatography-mass spectrometry assays in normal and in diabetic subjects. J Lipid Res. 1989 Nov;30(11):1811-7. [PubMed ] HMDB00023 (S)-3-Hydroxyisobutyric acid Blood; CSF; Urine Avogaro A, Bier DM: Contribution of 3-hydroxyisobutyrate to the measurement of 3-hydroxybutyrate in human plasma: comparison of enzymatic and gas-liquid chromatography-mass spectrometry assays in normal and in diabetic subjects. J Lipid Res. 1989 Nov;30(11):1811-7. [PubMed ] HMDB02712 1,5-Anhydrosorbitol Blood; CSF 16731998 [PubMed ] [PubMed ] HMDB04327 1-Butanol Blood Liebich HM, Buelow HJ, Kallmayer R: Quantification of endogenous aliphatic alcohols in serum and urine. J Chromatogr. 1982 Apr 30;239:343-9. [PubMed ] HMDB00001 1-Methylhistidine Blood; CSF; Saliva; Urine Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ] HMDB00357 3-Hydroxybutyric acid Blood; Cellular Cytoplasm; CSF; Urine del Carmen Crespillo M, Olveira G, de Adana MS, Rojo-Martinez G, Garcia-Aleman J, Olvera P, Soriguer F, Munoz A: Metabolic effects of an enteral nutrition formula for diabetes: comparison with standard formulas in patients with type 1 diabetes. Clin Nutr. 2003 Oct;22(5):483-7. [PubMed ] HMDB00479 3-Methylhistidine Blood; CSF; Urine Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ] HMDB04814 4-Heptanone Blood; Urine Wahl HG, Hoffmann A, Luft D, Liebich HM: Analysis of volatile organic compounds in human urine by headspace gas chromatography-mass spectrometry with a multipurpose sampler. J Chromatogr A. 1999 Jun 25;847(1-2):117-25. [PubMed ] HMDB02032 8-Hydroxyguanine Blood; CSF Shin CS, Moon BS, Park KS, Kim SY, Park SJ, Chung MH, Lee HK: Serum 8-hydroxy-guanine levels are increased in diabetic patients. Diabetes Care. 2001 Apr;24(4):733-7. [PubMed ] HMDB00060 Acetoacetic acid Blood; Cellular Cytoplasm; CSF; Urine 15982426 [PubMed ] HMDB01659 Acetone Blood; CSF; Urine Bales JR, Higham DP, Howe I, Nicholson JK, Sadler PJ: Use of high-resolution proton nuclear magnetic resonance spectroscopy for rapid multi-component analysis of urine. Clin Chem. 1984 Mar;30(3):426-32. [PubMed ] HMDB00599 Chromium Blood; CSF; Urine Stupar J, Vrtovec M, Dolinsek F: Longitudinal hair chromium profiles of elderly subjects with normal glucose tolerance and type 2 diabetes mellitus. Metabolism. 2007 Jan;56(1):94-104. [PubMed ] HMDB00660 D-Fructose Blood; CSF; Urine Kawasaki T, Akanuma H, Yamanouchi T: Increased fructose concentrations in blood and urine in patients with diabetes. Diabetes Care. 2002 Feb;25(2):353-7. [PubMed ] HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine 6321058 [PubMed ] [PubMed ] HMDB01311 D-Lactic acid Blood; CSF; Urine McLellan AC, Phillips SA, Thornalley PJ: Fluorimetric assay of D-lactate. Anal Biochem. 1992 Oct;206(1):12-6. [PubMed ] HMDB00087 Dimethylamine Blood; CSF; Saliva; Urine Zhang AQ, Mitchell SC, Smith RL: Dimethylamine in human urine. Clin Chim Acta. 1995 Jan 16;233(1-2):81-8. [PubMed ] HMDB00623 Dodecanedioic acid Blood Greco AV, Mingrone G, Capristo E, Benedetti G, De Gaetano A, Gasbarrini G: The metabolic effect of dodecanedioic acid infusion in non-insulin-dependent diabetic patients. Nutrition. 1998 Apr;14(4):351-7. [PubMed ] HMDB00153 Estriol Amniotic Fluid; Blood; Urine Giussi GA, Ballejo G, Benedetti WL: Estriol serum levels, neonatal vitality and stromal villous edema in diabetic pregnancies. Acta Diabetol Lat. 1979 Apr-Jun;16(2):105-10. [PubMed ] HMDB02030 Fructosamine Blood; Saliva Guevara-Aguirre J, Guevara-Aguirre M, Saavedra J, Bernstein G, Rosenbloom AL: Comparison of oral insulin spray and subcutaneous regular insulin at mealtime in type 1 diabetes. Diabetes Technol Ther. 2007 Aug;9(4):372-6. [PubMed ] HMDB00131 Glycerol Blood; CSF; Urine Blomqvist G, Alvarsson M, Grill V, Von Heijne G, Ingvar M, Thorell JO, Stone-Elander S, Widen L, Ekberg K: Effect of acute hyperketonemia on the cerebral uptake of ketone bodies in nondiabetic subjects and IDDM patients. Am J Physiol Endocrinol Metab. 2002 Jul;283(1):E20-8. [PubMed ] HMDB10366 Hyaluronan Blood; CSF Mine S, Okada Y, Kawahara C, Tabata T, Tanaka Y: Serum hyaluronan concentration as a marker of angiopathy in patients with diabetes mellitus. Endocr J. 2006 Dec;53(6):761-6. Epub 2006 Sep 12. [PubMed ] HMDB00062 L-Carnitine Blood; CSF; Urine Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed ] HMDB01167 Pyruvaldehyde Blood; Urine Khuhawar MY, Zardari LA, Laghari AJ: Capillary gas chromatographic determination of methylglyoxal from serum of diabetic patients by precolumn derivatization with 1,2-diamonopropane. J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Sep 15;873(1):15-9. Epub 2008 May 17. [PubMed ] HMDB01185 S-Adenosylmethionine Blood; CSF; Urine Hoppel CL, Genuth SM: Urinary excretion of acetylcarnitine during human diabetic and fasting ketosis. Am J Physiol. 1982 Aug;243(2):E168-72. [PubMed ] HMDB06088 Scyllitol Blood; CSF Ostlund RE Jr, McGill JB, Herskowitz I, Kipnis DM, Santiago JV, Sherman WR: D-chiro-inositol metabolism in diabetes mellitus. Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9988-92. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed ]
Dihydropyrimidinase deficiency (OMIM: 222748 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00079 Dihydrothymine CSF; Urine van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM: Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26. [PubMed ] HMDB00026 Ureidopropionic acid CSF; Urine van Kuilenburg AB, Meijer J, Dobritzsch D, Meinsma R, Duran M, Lohkamp B, Zoetekouw L, Abeling NG, van Tinteren HL, Bosch AM: Clinical, biochemical and genetic findings in two siblings with a dihydropyrimidinase deficiency. Mol Genet Metab. 2007 Jun;91(2):157-64. Epub 2007 Mar 26. [PubMed ]
Dihydropyrimidine dehydrogenase deficiency (OMIM: 274270 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00056 Beta-Alanine Blood; CSF; Urine Van Kuilenburg AB, Stroomer AE, Van Lenthe H, Abeling NG, Van Gennip AH: New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? Biochem J. 2004 Apr 1;379(Pt 1):119-24. [PubMed ] HMDB00076 Dihydrouracil Blood; CSF; Urine 8581129 [PubMed ] HMDB00262 Thymine Blood; CSF; Urine Metagene: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD) HMDB00300 Uracil Amniotic Fluid; Blood; CSF; Urine Metagene: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (DHPD)
Dimethyl sulfide poisoning 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB02303 Dimethylsulfide Blood; CSF Terazawa K, Kaji H, Akabane H, Takatori T: Determination of dimethyl sulphide in blood and adipose tissue by headspace gas analysis. J Chromatogr. 1991 Apr 19;565(1-2):453-6. [PubMed ]
Dimethyl sulfone supplementation 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04983 Dimethyl sulfone Blood; CSF; Urine Engelke UF, Tangerman A, Willemsen MA, Moskau D, Loss S, Mudd SH, Wevers RA: Dimethyl sulfone in human cerebrospinal fluid and blood plasma confirmed by one-dimensional (1)H and two-dimensional (1)H-(13)C NMR. NMR Biomed. 2005 Aug;18(5):331-6. [PubMed ]
Down's syndrome (OMIM: 190685 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00118 Homovanillic acid Blood; CSF; Urine Kay AD, Schapiro MB, Riker AK, Haxby JV, Rapoport SI, Cutler NR: Cerebrospinal fluid monoaminergic metabolites are elevated in adults with Down's syndrome. Ann Neurol. 1987 Apr;21(4):408-11. [PubMed ]
Eczema (OMIM: 603165 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01198 Leukotriene C4 Blood; CSF Hua Z, Fei H, Mingming X: Evaluation and interference of serum and skin lesion levels of leukotrienes in patients with eczema. Prostaglandins Leukot Essent Fatty Acids. 2006 Jul;75(1):51-5. Epub 2006 Jun 6. [PubMed ] HMDB02200 Leukotriene E4 Blood; Urine Hua Z, Fei H, Mingming X: Evaluation and interference of serum and skin lesion levels of leukotrienes in patients with eczema. Prostaglandins Leukot Essent Fatty Acids. 2006 Jul;75(1):51-5. Epub 2006 Jun 6. [PubMed ]
Encephalitis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01336 3,4-Dihydroxybenzeneacetic acid Blood; CSF; Urine Kalita J, Kumar S, Vijaykumar K, Palit G, Misra UK: A study of CSF catecholamine and its metabolites in acute and convalescent period of encephalitis. J Neurol Sci. 2007 Jan 15;252(1):62-6. Epub 2006 Nov 28. [PubMed ]
Endometrial cancer (OMIM: 608089 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00561 B-Carotene Blood Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ] HMDB01492 Gama-Tocopherol Blood; Breast Milk Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ] HMDB03000 Lycopene Blood Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ]
Epilepsy 27 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Shaywitz BA, Cohen DJ, Bowers MB: Reduced cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in children with epilepsy. Neurology. 1975 Jan;25(1):72-9. [PubMed ] HMDB00538 Adenosine triphosphate Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01341 ADP Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB00904 Citrulline Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine 10534261 [PubMed ] HMDB01201 Guanosine diphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01273 Guanosine triphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine 1705463 [PubMed ] HMDB02061 Hyaluronic acid Blood; CSF Perosa SR, Porcionatto MA, Cukiert A, Martins JR, Amado D, Nader HB, Cavalheiro EA, Leite JP, Naffah-Mazzacoratti MG: Extracellular matrix components are altered in the hippocampus, cortex, and cerebrospinal fluid of patients with mesial temporal lobe epilepsy. Epilepsia. 2002;43 Suppl 5:159-61. [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00168 L-Asparagine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00191 L-Aspartic acid Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00641 L-Glutamine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00177 L-Histidine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00687 L-Leucine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00696 L-Methionine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00167 L-Threonine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine 14992292 [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine 14992292 [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00020 p-Hydroxyphenylacetic acid Blood; CSF; Saliva; Urine Kobayashi K, Koide Y, Yoshino K, Shohmori T: [P-hydroxyphenylacetic acid concentrations in cerebrospinal fluid] No To Shinkei. 1982 Aug;34(8):769-74. [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00027 Tetrahydrobiopterin Blood; CSF Cady EB, Lorek A, Penrice J, Reynolds EO, Iles RA, Burns SP, Coutts GA, Cowan FM: Detection of propan-1,2-diol in neonatal brain by in vivo proton magnetic resonance spectroscopy. Magn Reson Med. 1994 Dec;32(6):764-7. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Botez MI, Young SN: Effects of anticonvulsant treatment and low levels of folate and thiamine on amine metabolites in cerebrospinal fluid. Brain. 1991 Feb;114 ( Pt 1A):333-48. [PubMed ]
Essential hypertension 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01388 Alpha-Linolenic acid Blood; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB01043 Arachidonic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB01539 Dimethyl-L-arginine Blood; CSF; Urine Surdacki A, Nowicki M, Sandmann J, Tsikas D, Boeger RH, Bode-Boeger SM, Kruszelnicka-Kwiatkowska O, Kokot F, Dubiel JS, Froelich JC: Reduced urinary excretion of nitric oxide metabolites and increased plasma levels of asymmetric dimethylarginine in men with essential hypertension. J Cardiovasc Pharmacol. 1999 Apr;33(4):652-8. [PubMed ] HMDB02183 Docosahexaenoic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB01999 Eicosapentaenoic acid Blood Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB00673 Linoleic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
Ethanol intoxication 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Fulop M, Bock J, Ben-Ezra J, Antony M, Danzig J, Gage JS: Plasma lactate and 3-hydroxybutyrate levels in patients with acute ethanol intoxication. Am J Med. 1986 Feb;80(2):191-4. [PubMed ]
Ethylene glycol poisoning 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00115 Glycolic acid Blood; CSF; Urine Jacobsen D, Hewlett TP, Webb R, Brown ST, Ordinario AT, McMartin KE: Ethylene glycol intoxication: evaluation of kinetics and crystalluria. Am J Med. 1988 Jan;84(1):145-52. [PubMed ]
Ethylmalonic encephalopathy 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00339 2-Methylbutyrylglycine Urine Metagene: ETHYLMALONIC ENCEPHALOPATHY HMDB00730 Isobutyrylglycine Urine Metagene: ETHYLMALONIC ENCEPHALOPATHY HMDB00678 Isovalerylglycine Blood; Urine Metagene: ETHYLMALONIC ENCEPHALOPATHY HMDB01844 Methylsuccinic acid Urine Metagene: ETHYLMALONIC ENCEPHALOPATHY HMDB00808 N-Butyrylglycine Urine Metagene: ETHYLMALONIC ENCEPHALOPATHY
Eucalyptol exposure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04472 Eucalyptol Blood Jager W, Nasel B, Nasel C, Binder R, Stimpfl T, Vycudilik W, Buchbauer G: Pharmacokinetic studies of the fragrance compound 1,8-cineol in humans during inhalation. Chem Senses. 1996 Aug;21(4):477-80. [PubMed ]
Fabry disease (OMIM: 301500 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04948 Ceramide (d18:1/9Z-18:1) Blood Groener JE, Poorthuis BJ, Kuiper S, Helmond MT, Hollak CE, Aerts JM: HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma. Clin Chem. 2007 Apr;53(4):742-7. Epub 2007 Mar 1. [PubMed ]
Familial mediterranean fever 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00490 Etiocholanolone Blood; Urine George JM, Wolff SM, Diller E, Bartter FC: Recurrent fever of unknown etiology: failure to demonstrate association between fever and plasma unconjugated etiocholanolone. J Clin Invest. 1969 Mar;48(3):558-63. [PubMed ]
Fanconi syndrome 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01051 Glyceraldehyde Blood; Urine Jonas AJ, Lin SN, Conley SB, Schneider JA, Williams JC, Caprioli RC: Urine glyceraldehyde excretion is elevated in the renal Fanconi syndrome. Kidney Int. 1989 Jan;35(1):99-104. [PubMed ]
Fatty Acid Oxidation disorder 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00387 3-Hydroxydodecanoic acid Blood Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ: Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb;46(2):149-55. [PubMed ]
Febrile seizures (OMIM: 604352 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Rating D, Siemes H, Loscher W: Low CSF GABA concentration in children with febrile convulsions, untreated epilepsy, and meningitis. J Neurol. 1983;230(4):217-25. [PubMed ] HMDB00175 Inosinic acid Blood; Cellular Cytoplasm; CSF Rodriguez-Nunez A, Cid E, Rodriguez-Garcia J, Camina F, Rodriguez-Segade S, Castro-Gago M: Cerebrospinal fluid purine metabolite and neuron-specific enolase concentrations after febrile seizures. Brain Dev. 2000 Oct;22(7):427-31. [PubMed ]
Folate deficiency 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00121 Folic acid Blood; Cellular Cytoplasm; CSF; Urine Wu AHB. Tietz clinical guide to laboratory tests. 4th ed. St. Louis: Saunders/Elsevier 2006. HMDB00099 L-Cystathionine Blood; CSF; Urine Stabler SP, Lindenbaum J, Savage DG, Allen RH: Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood. 1993 Jun 15;81(12):3404-13. [PubMed ]
Formic acid intoxication 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00142 Formic acid Blood; CSF; Urine Moore DF, Bentley AM, Dawling S, Hoare AM, Henry JA: Folinic acid and enhanced renal elimination in formic acid intoxication. J Toxicol Clin Toxicol. 1994;32(2):199-204. [PubMed ]
Friedreich's ataxia (OMIM: 229300 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00235 Thiamine Blood; CSF; Urine 1538220 [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
Fumarase deficiency (OMIM: 606812 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Metagene: FUMARIC ACIDURIA HMDB00134 Fumaric acid Blood; CSF; Urine Metagene: FUMARIC ACIDURIA HMDB00208 Oxoglutaric acid Blood; Cellular Cytoplasm; CSF; N/A; Urine Metagene: FUMARIC ACIDURIA
Functional hypothalamic amenorrhea 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Brundu B, Loucks TL, Adler LJ, Cameron JL, Berga SL: Increased cortisol in the cerebrospinal fluid of women with functional hypothalamic amenorrhea. J Clin Endocrinol Metab. 2006 Apr;91(4):1561-5. Epub 2006 Feb 7. [PubMed ]
Gaba-transaminase deficiency (OMIM: 613163 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00056 Beta-Alanine Blood; CSF; Urine Metagene: GABA TRANSAMINASE DEFICIENCY HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Metagene: GABA TRANSAMINASE DEFICIENCY
Galactose-1-phosphate uridyltransferase deficiency (OMIM: 230400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00143 D-Galactose Blood; Cellular Cytoplasm; CSF; Urine Ning C, Segal S: Plasma galactose and galactitol concentration in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia: determination by gas chromatography/mass spectrometry. Metabolism. 2000 Nov;49(11):1460-6. [PubMed ]
Galactosemia type 1 (OMIM: 230400 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00143 D-Galactose Blood; Cellular Cytoplasm; CSF; Urine Chen J, Yager C, Reynolds R, Palmieri M, Segal S: Erythrocyte galactose 1-phosphate quantified by isotope-dilution gas chromatography-mass spectrometry. Clin Chem. 2002;48(4):604-12. [PubMed ] HMDB00107 Galactitol Amniotic Fluid; Blood; CSF; Urine 7671965 [PubMed ] [PubMed ] HMDB00565 Galactonic acid Blood; Urine Yager CT, Chen J, Reynolds R, Segal S: Galactitol and galactonate in red blood cells of galactosemic patients. Mol Genet Metab. 2003 Nov;80(3):283-9. [PubMed ] HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Gallbladder disease 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01993 7a-Hydroxy-cholestene-3-one Blood; Urine Hillebrant CG, Axelson M, Bjorkhem I, Wang FH, Nyberg B, Einarsson C: Effects of short-term treatment with pravastatin on the hepatic synthesis of cholesterol and bile acids in gallstone patients. Eur J Clin Invest. 1998 Apr;28(4):324-8. [PubMed ] HMDB00054 Bilirubin Bile; Blood; CSF; Urine Lapidus A, Akerlund JE, Einarsson C: Gallbladder bile composition in patients with Crohn 's disease. World J Gastroenterol. 2006 Jan 7;12(1):70-4. [PubMed ] HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine 8591852 [PubMed ]
Gamma-glutamyltransferase deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB11738 Gamma-Glutamylglutamine Blood; CSF Hammond JW, Potter M, Sim KG, Wilcken B: Reduced glutathione, gamma-glutamylcysteine, cysteine and gamma-glutamylglutamine in gamma-glutamyltransferase deficiency. J Inherit Metab Dis. 1999 May;22(3):235-9. [PubMed ]
Gestational diabetes 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01043 Arachidonic acid Blood; CSF; Urine Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ] HMDB00673 Linoleic acid Blood; CSF; Urine Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ] HMDB00207 Oleic acid Blood; CSF; Urine Min Y, Ghebremeskel K, Lowy C, Thomas B, Crawford MA: Adverse effect of obesity on red cell membrane arachidonic and docosahexaenoic acids in gestational diabetes. Diabetologia. 2004 Jan;47(1):75-81. Epub 2003 Nov 22. [PubMed ]
Glucagon deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Metagene: GLUCAGON DEFICIENCY
Glucocorticoid deficiency, familial isolated (OMIM: 202200 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Metagene: GLUCOCORTICOID DEFICIENCY, FAMILIAL ISOLATED. MIGEON SYNDROME
Glucoglycinuria (OMIM: 138070 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine KASER H, COTTIER P, ANTENER I: Glucoglycinuria, a new familial syndrome. J Pediatr. 1962 Sep;61:386-94. [PubMed ]
Glucose transporter type 1 deficiency syndrome (OMIM: 606777 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00060 Acetoacetic acid Blood; Cellular Cytoplasm; CSF; Urine Klepper J, Diefenbach S, Kohlschutter A, Voit T: Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome. Prostaglandins Leukot Essent Fatty Acids. 2004 Mar;70(3):321-7. [PubMed ]
Glucose-galactose malabsorption (OMIM: 606824 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Brodehl J, Oemar BS, Hoyer PF: Renal glucosuria. Pediatr Nephrol. 1987 Jul;1(3):502-8. [PubMed ]
Glutaric acidemia type 2 (OMIM: 231680 ) 8 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00339 2-Methylbutyrylglycine Urine Metagene: GLUTARIC ACIDURIA II HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00710 4-Hydroxybutyric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00448 Adipic acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00606 D-2-Hydroxyglutaric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00730 Isobutyrylglycine Urine Metagene: GLUTARIC ACIDURIA II HMDB00678 Isovalerylglycine Blood; Urine Metagene: GLUTARIC ACIDURIA II HMDB00893 Suberic acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II
Glutaric aciduria II (OMIM: 231680 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00339 2-Methylbutyrylglycine Urine Metagene: GLUTARIC ACIDURIA II HMDB00710 4-Hydroxybutyric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00606 D-2-Hydroxyglutaric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II HMDB00893 Suberic acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA II
Glutaric aciduria type 1 (OMIM: 231670 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00428 3-Hydroxyglutaric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA I HMDB00620 Glutaconic acid Urine Metagene: GLUTARIC ACIDURIA I HMDB00661 Glutaric acid Blood; CSF; Urine Metagene: GLUTARIC ACIDURIA I
Glutaryl-CoA dehydrogenase deficiency (GDHD) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00429 17a-Estradiol Blood; Urine Pitt J, Carpenter K, Wilcken B, Boneh A: 3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing. J Inherit Metab Dis. 2002 May;25(2):83-8. [PubMed ]
Glutathione synthetase deficiency (OMIM: 266130 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00162 L-Proline Blood; CSF; Saliva; Urine Metagene: GLUTATHIONE SYNTHETASE DEFICIENCY HMDB00267 Pyroglutamic acid Blood; CSF; Urine 4557757 [PubMed ] [PubMed ]
Glycerol intolerance syndrome 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01315 Phosphorus Blood; CSF; Urine Metagene: GLYCEROL INTOLERANCE SYNDROM
Glycerol kinase deficiency (OMIM: 307030 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00131 Glycerol Blood; CSF; Urine 15026783 [PubMed ] [PubMed ]
Glycine N-methyltransferase deficiency (OMIM: 606664 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00696 L-Methionine Blood; CSF; Urine Metagene: GLYCINE N-METHYLTRANSFERASE DEFICIENCY
Glycogen storage disease 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Glycolic aciduria (OMIM: 259900 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB06372 L-Glyceric acid Blood; Urine Petrarulo M, Marangella M, Cosseddu D, Linari F: High-performance liquid chromatographic assay for L-glyceric acid in body fluids. Application in primary hyperoxaluria type 2. Clin Chim Acta. 1992 Oct 30;211(3):143-53. [PubMed ]
Gout (OMIM: 138900 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Metagene: GOUT
Growth hormone deficiency (OMIM: 139250 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00054 Bilirubin Bile; Blood; CSF; Urine Darzy KH, Murray RD, Gleeson HK, Pezzoli SS, Thorner MO, Shalet SM: The impact of short-term fasting on the dynamics of 24-hour growth hormone (GH) secretion in patients with severe radiation-induced GH deficiency. J Clin Endocrinol Metab. 2006 Mar;91(3):987-94. Epub 2005 Dec 29. [PubMed ] HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Darzy KH, Murray RD, Gleeson HK, Pezzoli SS, Thorner MO, Shalet SM: The impact of short-term fasting on the dynamics of 24-hour growth hormone (GH) secretion in patients with severe radiation-induced GH deficiency. J Clin Endocrinol Metab. 2006 Mar;91(3):987-94. Epub 2005 Dec 29. [PubMed ] HMDB00569 Deoxypyridinoline Blood; Urine Rodriguez-Arnao J, James I, Jabbar A, Trainer PJ, Perrett D, Besser GM, Ross RJ: Serum collagen crosslinks as markers of bone turn-over during GH replacement therapy in growth hormone deficient adults. Clin Endocrinol (Oxf). 1998 Apr;48(4):455-62. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Burman P, Hetta J, Wide L, Mansson JE, Ekman R, Karlsson FA: Growth hormone treatment affects brain neurotransmitters and thyroxine [see comment] Clin Endocrinol (Oxf). 1996 Mar;44(3):319-24. [PubMed ] HMDB00191 L-Aspartic acid Blood; CSF; Saliva; Urine Burman P, Hetta J, Wide L, Mansson JE, Ekman R, Karlsson FA: Growth hormone treatment affects brain neurotransmitters and thyroxine [see comment] Clin Endocrinol (Oxf). 1996 Mar;44(3):319-24. [PubMed ]
Hartnup disease (OMIM: 234500 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Jonas AJ, Butler IJ: Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. J Clin Invest. 1989 Jul;84(1):200-4. [PubMed ]
Hawkinsinuria (OMIM: 140350 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00707 4-Hydroxyphenylpyruvic acid Blood; Urine Metagene: HAWKINSINURIA HMDB00451 cis-4-Hydroxycyclohexylacetic acid Urine Metagene: HAWKINSINURIA HMDB00595 Hydrogen carbonate Blood; Cellular Cytoplasm; CSF Metagene: HAWKINSINURIA HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Metagene: HAWKINSINURIA
Head injury 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00068 Epinephrine Blood; CSF; Urine Lambert G, Naredi S, Eden E, Rydenhag B, Friberg P: Monoamine metabolism and sympathetic nervous activation following subarachnoid haemorrhage: influence of gender and hydrocephalus. Brain Res Bull. 2002 May;58(1):77-82. [PubMed ]
Headache 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00058 Cyclic AMP Blood; CSF; Urine Kruuse C, Frandsen E, Schifter S, Thomsen LL, Birk S, Olesen J: Plasma levels of cAMP, cGMP and CGRP in sildenafil-induced headache. Cephalalgia. 2004 Jul;24(7):547-53. [PubMed ] HMDB01314 Cyclic GMP Blood; CSF Kruuse C, Frandsen E, Schifter S, Thomsen LL, Birk S, Olesen J: Plasma levels of cAMP, cGMP and CGRP in sildenafil-induced headache. Cephalalgia. 2004 Jul;24(7):547-53. [PubMed ]
Heart failure 12 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00037 Aldosterone Blood; Saliva; Urine Ferreira A, Bettencourt P, Pestana M, Correia F, Serrao P, Martins L, Cerqueira-Gomes M, Soares-Da-Silva P: Heart failure, aging, and renal synthesis of dopamine. Am J Kidney Dis. 2001 Sep;38(3):502-9. [PubMed ] HMDB01917 Digoxin Blood Adams KF Jr, Gheorghiade M, Uretsky BF, Patterson JH, Schwartz TA, Young JB: Clinical benefits of low serum digoxin concentrations in heart failure. J Am Coll Cardiol. 2002 Mar 20;39(6):946-53. [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00687 L-Leucine Blood; CSF; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00696 L-Methionine Blood; CSF; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB00167 L-Threonine Blood; CSF; Saliva; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ] HMDB01304 QH2 Blood Bhagavan HN, Chopra RK: Plasma coenzyme Q10 response to oral ingestion of coenzyme Q10 formulations. Mitochondrion. 2007 Jun;7 Suppl:S78-88. Epub 2007 Mar 27. [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Norrelund H, Wiggers H, Halbirk M, Frystyk J, Flyvbjerg A, Botker HE, Schmitz O, Jorgensen JO, Christiansen JS, Moller N: Abnormalities of whole body protein turnover, muscle metabolism and levels of metabolic hormones in patients with chronic heart failure. J Intern Med. 2006 Jul;260(1):11-21. [PubMed ]
Heat stress 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00216 Norepinephrine Blood; CSF; Urine McMorris T, Swain J, Smith M, Corbett J, Delves S, Sale C, Harris RC, Potter J: Heat stress, plasma concentrations of adrenaline, noradrenaline, 5-hydroxytryptamine and cortisol, mood state and cognitive performance. Int J Psychophysiol. 2006 Aug;61(2):204-15. Epub 2005 Nov 23. [PubMed ]
Hemodialysis 19 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00043 Betaine Blood; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB01282 Diadenosine hexaphosphate Blood Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ] HMDB01192 Diadenosine pentaphosphate Blood Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ] HMDB01211 Diadenosine tetraphosphate Blood Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ] HMDB01155 Diadenosine triphosphate Blood Jankowski J, Jankowski V, Laufer U, van der Giet M, Henning L, Tepel M, Zidek W, Schluter H: Identification and quantification of diadenosine polyphosphate concentrations in human plasma. Arterioscler Thromb Vasc Biol. 2003 Jul 1;23(7):1231-8. Epub 2003 May 8. [PubMed ] HMDB00115 Glycolic acid Blood; CSF; Urine Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ] HMDB00870 Histamine Blood; CSF; Urine Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB00725 Hydroxyproline Blood; Urine Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ] HMDB00162 L-Proline Blood; CSF; Saliva; Urine Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ] HMDB02329 Oxalic acid Blood; Urine Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ] HMDB01858 p-Cresol Blood; Urine De Smet R, Van Kaer J, Liebich H, Lesaffer G, Verstraete A, Dhondt A, Duym P, Lameire N, Vanholder R: Heparin-induced release of protein-bound solutes during hemodialysis is an in vitro artifact. Clin Chem. 2001 May;47(5):901-9. [PubMed ] HMDB11635 p-Cresol sulfate Blood Pham NM, Recht NS, Hostetter TH, Meyer TW: Removal of the protein-bound solutes indican and p-cresol sulfate by peritoneal dialysis. Clin J Am Soc Nephrol. 2008 Jan;3(1):85-90. Epub 2007 Nov 28. [PubMed ] HMDB01429 Phosphate Blood; Urine Oikawa O, Higuchi T, Yamazaki T, Yamamoto C, Fukuda N, Matsumoto K: Evaluation of serum fetuin-A relationships with biochemical parameters in patients on hemodialysis. Clin Exp Nephrol. 2007 Dec;11(4):304-8. Epub 2007 Dec 21. [PubMed ] HMDB02107 Phthalic acid Blood; Saliva; Urine Pollack GM, Buchanan JF, Slaughter RL, Kohli RK, Shen DD: Circulating concentrations of di(2-ethylhexyl) phthalate and its de-esterified phthalic acid products following plasticizer exposure in patients receiving hemodialysis. Toxicol Appl Pharmacol. 1985 Jun 30;79(2):257-67. [PubMed ] HMDB00235 Thiamine Blood; CSF; Urine Hung SC, Hung SH, Tarng DC, Yang WC, Chen TW, Huang TP: Thiamine deficiency and unexplained encephalopathy in hemodialysis and peritoneal dialysis patients. Am J Kidney Dis. 2001 Nov;38(5):941-7. [PubMed ] HMDB00305 Vitamin A Blood Cabral PC, Diniz Ada S, de Arruda IK: Vitamin A and zinc status in patients on maintenance haemodialysis. Nephrology (Carlton). 2005 Oct;10(5):459-63. [PubMed ] HMDB00881 Xanthurenic acid Blood; Urine Pawlak D, Pawlak K, Malyszko J, Mysliwiec M, Buczko W: Accumulation of toxic products degradation of kynurenine in hemodialyzed patients. Int Urol Nephrol. 2001;33(2):399-404. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ]
Hemolytic uremic syndrome (OMIM: 235400 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04879 Trihexosylceramide (d18:1/16:0) Blood; Urine Watarai S, Yokota K, Tana, Kishimoto T, Kanadani T, Taketa K, Oguma K: Relationship between susceptibility to hemolytic-uremic syndrome and levels of globotriaosylceramide in human sera. J Clin Microbiol. 2001 Feb;39(2):798-800. [PubMed ] HMDB04881 Trihexosylceramide (d18:1/20:0) Blood; Urine Watarai S, Yokota K, Tana, Kishimoto T, Kanadani T, Taketa K, Oguma K: Relationship between susceptibility to hemolytic-uremic syndrome and levels of globotriaosylceramide in human sera. J Clin Microbiol. 2001 Feb;39(2):798-800. [PubMed ]
Hepatic and biliary malignancies 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Khan SA, Cox IJ, Hamilton G, Thomas HC, Taylor-Robinson SD: In vivo and in vitro nuclear magnetic resonance spectroscopy as a tool for investigating hepatobiliary disease: a review of H and P MRS applications. Liver Int. 2005 Apr;25(2):273-81. [PubMed ]
Hepatic coma 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00232 Quinolinic acid Blood; CSF; Urine Moroni F, Lombardi G, Carla V, Lal S, Etienne P, Nair NP: Increase in the content of quinolinic acid in cerebrospinal fluid and frontal cortex of patients with hepatic failure. J Neurochem. 1986 Dec;47(6):1667-71. [PubMed ]
Hepatic encephalopathy 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03671 2-Heptanone CSF Goldberg EM, Blendis LM, Sandler S: A gas chromatographic--mass spectrometric study of profiles of volatile metabolites in hepatic encephalopathy. J Chromatogr. 1981 Dec 11;226(2):291-9. [PubMed ] HMDB01659 Acetone Blood; CSF; Urine Goldberg EM, Blendis LM, Sandler S: A gas chromatographic--mass spectrometric study of profiles of volatile metabolites in hepatic encephalopathy. J Chromatogr. 1981 Dec 11;226(2):291-9. [PubMed ] HMDB05960 D-Pipecolic acid Blood Fujita T, Amuro Y, Hada T, Higashino K: Plasma levels of pipecolic acid, both L- and D-enantiomers, in patients with chronic liver diseases, especially hepatic encephalopathy. Clin Chim Acta. 1999 Sep;287(1-2):99-109. [PubMed ] HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Campollo O, MacGillivray BB, McIntyre N: [Association of plasma ammonia and GABA levels and the degree of hepatic encephalopathy] Rev Invest Clin. 1992 Oct-Dec;44(4):483-90. [PubMed ] HMDB06478 Iso-Valeraldehyde Blood; CSF 7320160 [PubMed ]
Hepatitis 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02061 Hyaluronic acid Blood; CSF Ukarapol N, Wongsawasdi L, Ong-Chai S, Riddhiputra P, Kongtawelert P: Hyaluronic acid: additional biochemical marker in the diagnosis of biliary atresia. Pediatr Int. 2007 Oct;49(5):608-11. [PubMed ] HMDB02639 Sulfolithocholylglycine Blood; Urine Kobayashi N, Katsumata H, Uto Y, Goto J, Niwa T, Kobayashi K, Mizuuchi Y: A monoclonal antibody-based enzyme-linked immunosorbent assay of glycolithocholic acid sulfate in human urine for liver function test. Steroids. 2002 Sep;67(10):827-33. [PubMed ]
Hepatobiliary diseases 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Rifai K, Ockenga J, Manns MP, Bischoff SC: Repeated administration of a vitamin preparation containing glycocholic acid in patients with hepatobiliary disease. Aliment Pharmacol Ther. 2006 May 1;23(9):1337-45. [PubMed ]
Hepatocellular carcinoma (OMIM: 114550 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ] HMDB01452 Thromboxane A2 Blood; CSF; Urine Matsumata T, Yamamoto K, Shirabe K, Shimada M, Sugimachi K, Takesue F, Muto Y, Ikeda T: Urinary excretion of prostaglandins and renal function after hepatic resection. Hepatogastroenterology. 1997 May-Jun;44(15):774-8. [PubMed ]
Hereditary coproporphyria (OMIM: 121300 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00570 Coproporphyrin III Blood; Urine Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ] HMDB00737 Heptacarboxylporphyrin I Urine Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ]
Hereditary spastic paraplegia (OMIM: 182601 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00235 Thiamine Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
Herpes zoster 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03040 Arabinosylhypoxanthine Blood McCann WP, Hall LM, Siler W, Barton N, Whitley RJ: High-pressure liquid chromatographic methods for determining arabinosyladenine-5'-monophosphate, arabinosyladenine, and arabinosylhypoxanthine in plasma and urine. Antimicrob Agents Chemother. 1985 Aug;28(2):265-73. [PubMed ]
Histidinemia (OMIM: 235800 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00177 L-Histidine Blood; CSF; Saliva; Urine 7729054 http://www.metagene.de/program/d.prg?mp=HISTIDINEMIA http://www.metagene.de/program/d.prg?mp=HISTIDINURIA HMDB02089 N-Ribosylhistidine Blood; Urine Imamura I, Watanabe T, Sakamoto Y, Wakamiya T, Shiba T, Hase Y, Tsuruhara T, Wada H: N tau-Ribosylhistidine, a novel histidine derivative in urine of histidinemic patients. Isolation, structure, and tissue level. J Biol Chem. 1985 Sep 5;260(19):10528-30. [PubMed ]
Homocystinuria (OMIM: 236200 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00575 DL-Homocystine Blood; Urine 9470012 [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine Metagene: HOMOCYSTINURIA, CYSTATHIONINE BETA-SYNTHASE DEFICIENCY HMDB02034 Homolanthionine Perry TL, Hansen S, MacDougall L: Homolanthionine excretion in homocystinuria. Science. 1966 Jun 24;152(730):1750-2. [PubMed ] HMDB00676 L-Homocystine CSF; Urine CARSON NA, DENT CE, FIELD CM, GAULL GE: HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES. J Pediatr. 1965 Mar;66:565-83. [PubMed ] HMDB00696 L-Methionine Blood; CSF; Urine Metagene: HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY
Homocystinuria due to defect of N(5,10)-methylene THF deficiency (OMIM: 236250 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00575 DL-Homocystine Blood; Urine Metagene: HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY HMDB00696 L-Methionine Blood; CSF; Urine Metagene: HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY
Homozygous sickle cell disease 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00607 Cyanocobalamin Blood; CSF; Urine van der Dijs FP, Schnog JJ, Brouwer DA, Velvis HJ, van den Berg GA, Bakker AJ, Duits AJ, Muskiet FD, Muskiet FA: Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients. Am J Hematol. 1998 Nov;59(3):192-8. [PubMed ] HMDB00239 Pyridoxine Blood van der Dijs FP, Schnog JJ, Brouwer DA, Velvis HJ, van den Berg GA, Bakker AJ, Duits AJ, Muskiet FD, Muskiet FA: Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients. Am J Hematol. 1998 Nov;59(3):192-8. [PubMed ]
Huntington's disease (OMIM: 143100 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03869 Epsilon-(gamma-Glutamyl)-lysine Blood; CSF Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ] HMDB04207 L-a-glutamyl-L-Lysine CSF Jeitner TM, Bogdanov MB, Matson WR, Daikhin Y, Yudkoff M, Folk JE, Steinman L, Browne SE, Beal MF, Blass JP, Cooper AJ: N(epsilon)-(gamma-L-glutamyl)-L-lysine (GGEL) is increased in cerebrospinal fluid of patients with Huntington's disease. J Neurochem. 2001 Dec;79(5):1109-12. [PubMed ]
Hydrocephalus 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00157 Hypoxanthine Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Castro-Gago M, Rodriguez IN, Rodriguez-Nunez A, Guitian JP, Rocamonde SL, Rodriguez-Segade S: Therapeutic criteria in hydrocephalic children. Childs Nerv Syst. 1989 Dec;5(6):361-3. [PubMed ] HMDB00684 L-Kynurenine Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00845 Neopterin Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00292 Xanthine Blood; CSF; Urine Castro-Gago M, Rodriguez IN, Rodriguez-Nunez A, Guitian JP, Rocamonde SL, Rodriguez-Segade S: Therapeutic criteria in hydrocephalic children. Childs Nerv Syst. 1989 Dec;5(6):361-3. [PubMed ]
Hydrogen sulfide poisoning 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03276 Hydrogen sulfide Blood Kage S, Ikeda H, Ikeda N, Tsujita A, Kudo K: Fatal hydrogen sulfide poisoning at a dye works. Leg Med (Tokyo). 2004 Jul;6(3):182-6. [PubMed ] HMDB00257 Thiosulfate Bile; Blood; Urine Kage S, Ikeda H, Ikeda N, Tsujita A, Kudo K: Fatal hydrogen sulfide poisoning at a dye works. Leg Med (Tokyo). 2004 Jul;6(3):182-6. [PubMed ]
Hydroxyprolinemia (OMIM: 237000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00725 Hydroxyproline Blood; Urine Metagene: HYDROXYPROLINEMIA
Hyper beta-alaninemia (OMIM: 237400 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00056 Beta-Alanine Blood; CSF; Urine Metagene: HYPER BETA-ALANINEMIA HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Metagene: HYPER BETA-ALANINEMIA
Hyperargininemia (OMIM: 207800 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03148 Argininic acid Blood Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ] HMDB00670 Homo-L-arginine Blood; CSF; Urine Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ] HMDB04620 N-a-Acetyl-L-arginine Blood; CSF; Urine Mizutani N, Hayakawa C, Ohya Y, Watanabe K, Watanabe Y, Mori A: Guanidino compounds in hyperargininemia. Tohoku J Exp Med. 1987 Nov;153(3):197-205. [PubMed ]
Hypercholesterolemia 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Thelen KM, Laaksonen R, Paiva H, Lehtimaki T, Lutjohann D: High-dose statin treatment does not alter plasma marker for brain cholesterol metabolism in patients with moderately elevated plasma cholesterol levels. J Clin Pharmacol. 2006 Jul;46(7):812-6. [PubMed ] HMDB00885 CE(16:0) Blood Kim DH, Lee KJ, Heo GS: Analysis of cholesterol and cholesteryl esters in human serum using capillary supercritical fluid chromatography. J Chromatogr B Biomed Appl. 1994 Apr 22;655(1):1-8. [PubMed ] HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine [No authors listed]Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. The Expert Panel. Arch Intern Med. 1988 Jan;148(1):36-69. [PubMed ] HMDB00653 Cholesterol sulfate Blood Tamasawa N, Tamasawa A, Takebe K: Higher levels of plasma cholesterol sulfate in patients with liver cirrhosis and hypercholesterolemia. Lipids. 1993 Sep;28(9):833-6. [PubMed ]
Hyperdibasic aminoaciduria I (OMIM: 222690 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00517 L-Arginine Blood; CSF; Urine Metagene: HYPERDIBASIC AMINOACIDURIA I HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Metagene: HYPERDIBASIC AMINOACIDURIA I HMDB00214 Ornithine Blood; CSF; Saliva; Urine Metagene: HYPERDIBASIC AMINOACIDURIA I
Hyperlipidemia (OMIM: 238600 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Sinha S, Misra A, Kumar V, Jagannathan NR, Bal CS, Pandey RM, Singhania R, Deepak: Proton magnetic resonance spectroscopy and single photon emission computed tomography study of the brain in asymptomatic young hyperlipidaemic Asian Indians in North India show early abnormalities. Clin Endocrinol (Oxf). 2004 Aug;61(2):182-9. [PubMed ]
Hypermethioninemia (OMIM: 613752 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00696 L-Methionine Blood; CSF; Urine Metagene: S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Hyperoxalemia 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00044 Ascorbic acid Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ] HMDB00094 Citric acid Blood; CSF; Urine Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ] HMDB00562 Creatinine Amniotic Fluid; Blood; CSF; Saliva; Urine Ogawa Y, Machida N, Jahana M, Gakiya M, Chinen Y, Oda M, Morozumi M, Sugaya K: Major factors modulating the serum oxalic acid level in hemodialysis patients. Front Biosci. 2004 Sep 1;9:2901-8. [PubMed ]
Hypertension (OMIM: 145500 ) 16 metabolites
HMDB ID Name Biofluid Location(s) References HMDB05199 (R)-Salsolinol Blood; CSF Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ] HMDB05998 20-Hydroxyeicosatetraenoic acid Blood; CSF; Urine Minuz P, Jiang H, Fava C, Turolo L, Tacconelli S, Ricci M, Patrignani P, Morganti A, Lechi A, McGiff JC: Altered release of cytochrome p450 metabolites of arachidonic acid in renovascular disease. Hypertension. 2008 May;51(5):1379-85. Epub 2008 Mar 31. [PubMed ] HMDB10345 Aldosterone 18-glucuronide Urine Abdelhamid S, Blomer R, Hommel G, Haack D, Lewicka S, Fiegel P, Krumme B: Urinary tetrahydroaldosterone as a screening method for primary aldosteronism: a comparative study. Am J Hypertens. 2003 Jul;16(7):522-30. [PubMed ] HMDB01388 Alpha-Linolenic acid Blood; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB01035 Angiotensin II Blood; CSF; Urine Sim MK, Qui XS: Angiotensins in plasma of hypertensive rats and human. Regul Pept. 2003 Mar 28;111(1-3):179-82. [PubMed ] HMDB01036 Angiotensin III Blood Sim MK, Qui XS: Angiotensins in plasma of hypertensive rats and human. Regul Pept. 2003 Mar 28;111(1-3):179-82. [PubMed ] HMDB01043 Arachidonic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB00076 Dihydrouracil Blood; CSF; Urine Hayashi K, Kidouchi K, Sumi S, Mizokami M, Orito E, Kumada K, Ueda R, Wada Y: Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. Clin Cancer Res. 1996 Dec;2(12):1937-41. [PubMed ] HMDB02183 Docosahexaenoic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB01999 Eicosapentaenoic acid Blood Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB00673 Linoleic acid Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ] HMDB04989 m-Tyramine Blood; Urine Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ] HMDB04825 p-Octopamine Blood; Urine Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ] HMDB04826 p-Synephrine Blood; Urine Andrew R, Best SA, Watson DG, Midgley JM, Reid JL, Squire IB: Analysis of biogenic amines in plasma of hypertensive patients and a control group. Neurochem Res. 1993 Nov;18(11):1179-82. [PubMed ] HMDB00300 Uracil Amniotic Fluid; Blood; CSF; Urine Hayashi K, Kidouchi K, Sumi S, Mizokami M, Orito E, Kumada K, Ueda R, Wada Y: Possible prediction of adverse reactions to pyrimidine chemotherapy from urinary pyrimidine levels and a case of asymptomatic adult dihydropyrimidinuria. Clin Cancer Res. 1996 Dec;2(12):1937-41. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine Wang S, Ma A, Song S, Quan Q, Zhao X, Zheng X: Fasting serum free fatty acid composition, waist/hip ratio and insulin activity in essential hypertensive patients. Hypertens Res. 2008 Apr;31(4):623-32. [PubMed ]
Hyperthyroidism 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04225 2-Oxoarginine Blood; CSF Verhelst J, Berwaerts J, Marescau B, Abs R, Neels H, Mahler C, De Deyn PP: Serum creatine, creatinine, and other guanidino compounds in patients with thyroid dysfunction. Metabolism. 1997 Sep;46(9):1063-7. [PubMed ] HMDB03474 3,5-Diiodo-L-tyrosine Blood; Urine Nelson JC, Weiss RM, Lewis JE, Wilcox RB, Palmer FJ: A multiple ligand-binding radioimmunoassay of diiodotyrosine. J Clin Invest. 1974 Feb;53(2):416-22. [PubMed ] HMDB00582 3,5-Diiodothyronine Blood; Urine Hommel E, Faber J, Kirkegaard C, Siersbaek-Nielsen K, Friis T: Urinary excretion of unconjugated and conjugated 3,5-diiodothyronine. Horm Metab Res. 1985 Feb;17(2):90-2. [PubMed ] HMDB00667 L-Thyronine Blood; Urine Chopra IJ, Boado RJ, Geffner DL, Solomon DH: A radioimmunoassay for measurement of thyronine and its acetic acid analog in urine. J Clin Endocrinol Metab. 1988 Sep;67(3):480-7. [PubMed ] HMDB00265 Liothyronine Blood; Saliva; Urine Yoshida K, Sakurada T, Kaise N, Yamamoto M, Kaise K, Saito S, Yoshinaga K: Measurement of triiodothyronine in urine. Tohoku J Exp Med. 1980 Dec;132(4):389-95. [PubMed ] HMDB02728 Thyroxine sulfate Blood Chopra IJ, Santini F, Hurd RE, Chua Teco GN: A radioimmunoassay for measurement of thyroxine sulfate. J Clin Endocrinol Metab. 1993 Jan;76(1):145-50. [PubMed ]
Hypervalinemia (OMIM: 277100 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00883 L-Valine Blood; CSF; Saliva; Urine Metagene: HYPERVALINEMIA
Hyperzincaemia and hypercalprotectinaemia (OMIM: 194470 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01303 Zinc Blood; CSF; Urine Metagene: HYPERZINCAEMIA AND HYPERCALPROTECTINAEMIA
Hypobetalipoproteinemia 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04844 Ganglioside GM3 (d18:1/16:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB00140 Glucosylceramide Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04866 Lactosylceramide (d18:1/12:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04958 Tetrahexosylceramide (d18:1/12:0) Blood Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04877 Trihexosylceramide (d18:1/12:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04880 Trihexosylceramide (d18:1/18:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04882 Trihexosylceramide (d18:1/22:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04886 Trihexosylceramide (d18:1/24:0) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ] HMDB04884 Trihexosylceramide (d18:1/26:1(17Z)) Blood; Urine Dawson G, Kruski AW, Scanu AM: Distribution of glycosphingolipids in the serum lipoproteins of normal human subjects and patients with hypo- and hyperlipidemias. J Lipid Res. 1976 Mar;17(2):125-31. [PubMed ]
Hypogonadism 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00628 Epitestosterone Blood Kicman AT, Coutts SB, Cowan DA, Handelsman DJ, Howe CJ, Burring S, Wu FC: Adrenal and gonadal contributions to urinary excretion and plasma concentration of epitestosterone in men--effect of adrenal stimulation and implications for detection of testosterone abuse. Clin Endocrinol (Oxf). 1999 May;50(5):661-8. [PubMed ] HMDB00234 Testosterone Blood; CSF; Saliva; Urine http://en.wikipedia.org/wiki/Testosterone
Hypophosphatemia 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01429 Phosphate Blood; Urine Amanzadeh J, Reilly RF Jr: Hypophosphatemia: an evidence-based approach to its clinical consequences and management. Nat Clin Pract Nephrol. 2006 Mar;2(3):136-48. [PubMed ]
Hypothyroidism (OMIM: 218700 ) 14 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04225 2-Oxoarginine Blood; CSF Verhelst J, Berwaerts J, Marescau B, Abs R, Neels H, Mahler C, De Deyn PP: Serum creatine, creatinine, and other guanidino compounds in patients with thyroid dysfunction. Metabolism. 1997 Sep;46(9):1063-7. [PubMed ] HMDB01336 3,4-Dihydroxybenzeneacetic acid Blood; CSF; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00582 3,5-Diiodothyronine Blood; Urine Hommel E, Faber J, Kirkegaard C, Siersbaek-Nielsen K, Friis T: Urinary excretion of unconjugated and conjugated 3,5-diiodothyronine. Horm Metab Res. 1985 Feb;17(2):90-2. [PubMed ] HMDB00073 Dopamine Blood; CSF; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00265 Liothyronine Blood; Saliva; Urine Yoshida K, Sakurada T, Kaise N, Yamamoto M, Kaise K, Saito S, Yoshinaga K: Measurement of triiodothyronine in urine. Tohoku J Exp Med. 1980 Dec;132(4):389-95. [PubMed ] HMDB00216 Norepinephrine Blood; CSF; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB00259 Serotonin Blood; CSF; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB05763 Thyrotropin-releasing factor Blood; Urine Iijima Y, Endo Y, Hata N, Fujita H, Unoki M, Miyal K: Highly specific enzyme immunoassay for the beta-subunit of human thyrotropin with use of monoclonal antibodies. Clin Chem. 1988 Jan;34(1):98-102. [PubMed ] HMDB00248 Thyroxine Blood; Saliva; Urine Sjoberg S, Eriksson M, Nordin C: L-thyroxine treatment and neurotransmitter levels in the cerebrospinal fluid of hypothyroid patients: a pilot study. Eur J Endocrinol. 1998 Nov;139(5):493-7. [PubMed ] HMDB02728 Thyroxine sulfate Blood Chopra IJ, Santini F, Hurd RE, Chua Teco GN: A radioimmunoassay for measurement of thyroxine sulfate. J Clin Endocrinol Metab. 1993 Jan;76(1):145-50. [PubMed ]
Hypoxic-ischemic encephalopathy 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00058 Cyclic AMP Blood; CSF; Urine Liu H, Chang L, Chen Y, Xia S, Zhang X: Clinical implication of the changes of cAMP, TXA2 and PGI2 in CSF of asphyxiated newborns. J Huazhong Univ Sci Technolog Med Sci. 2003;23(2):195-7, 200. [PubMed ]
Idiopathic intracranial hypertension (OMIM: 243200 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03598 Retinyl ester Blood Jacobson DM, Berg R, Wall M, Digre KB, Corbett JJ, Ellefson RD: Serum vitamin A concentration is elevated in idiopathic intracranial hypertension. Neurology. 1999 Sep 22;53(5):1114-8. [PubMed ]
Idiopathic oro-facial pain 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00397 2-Pyrocatechuic acid Blood; Urine Aghabeigi B, Haque M, Wasil M, Hodges SJ, Henderson B, Harris M: The role of oxygen free radicals in idiopathic facial pain. Br J Oral Maxillofac Surg. 1997 Jun;35(3):161-5. [PubMed ] HMDB00152 Gentisic acid Blood; Urine Aghabeigi B, Haque M, Wasil M, Hodges SJ, Henderson B, Harris M: The role of oxygen free radicals in idiopathic facial pain. Br J Oral Maxillofac Surg. 1997 Jun;35(3):161-5. [PubMed ]
Idiopathic polyneuritis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00058 Cyclic AMP Blood; CSF; Urine Lerche A, Svenson M, Wiik A: Cerebrospinal fluid levels of cyclic nucleotides in meningitis and idiopathic polyneuritis. Acta Neurol Scand. 1984 Mar;69(3):168-75. [PubMed ]
Ileostomy 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB05760 Dihydrodaidzein Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ] HMDB05897 Dihydrogenistein Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ] HMDB02209 Equol Blood; Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ] HMDB03217 Genistein Blood; Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ] HMDB05781 Glycitein Blood; Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ] HMDB04629 O-Desmethylangolensin Blood; Urine Walsh KR, Haak SJ, Bohn T, Tian Q, Schwartz SJ, Failla ML: Isoflavonoid glucosides are deconjugated and absorbed in the small intestine of human subjects with ileostomies. Am J Clin Nutr. 2007 Apr;85(4):1050-6. [PubMed ]
Iminoglycinuria (OMIM: 242600 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Metagene: IMINOGLYCINURIA HMDB00725 Hydroxyproline Blood; Urine Metagene: IMINOGLYCINURIA HMDB00162 L-Proline Blood; CSF; Saliva; Urine Metagene: IMINOGLYCINURIA
Impaired glucose tolerance 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Costa A, Iguala I, Bedini J, Quinto L, Conget I: Uric acid concentration in subjects at risk of type 2 diabetes mellitus: relationship to components of the metabolic syndrome. Metabolism. 2002 Mar;51(3):372-5. [PubMed ]
Infantile Refsum's disease (OMIM: 266510 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Metagene: INFANTILE REFSUM'S DISEASE
Intestinal failure 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00904 Citrulline Blood; CSF; Urine Crenn P, Coudray-Lucas C, Thuillier F, Cynober L, Messing B: Postabsorptive plasma citrulline concentration is a marker of absorptive enterocyte mass and intestinal failure in humans. Gastroenterology. 2000 Dec;119(6):1496-505. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Crenn P, Coudray-Lucas C, Thuillier F, Cynober L, Messing B: Postabsorptive plasma citrulline concentration is a marker of absorptive enterocyte mass and intestinal failure in humans. Gastroenterology. 2000 Dec;119(6):1496-505. [PubMed ]
Intrahepatic biliary hypoplasia 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Intraventricular hemorrhage 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00684 L-Kynurenine Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Heyes MP, Saito K, Milstien S, Schiff SJ: Quinolinic acid in tumors, hemorrhage and bacterial infections of the central nervous system in children. J Neurol Sci. 1995 Nov;133(1-2):112-8. [PubMed ]
Invasive candidiasis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00568 D-Arabitol Blood; CSF; Urine Kiehn TE, Bernard EM, Gold JW, Armstrong D: Candidiasis: detection by gas-liquid chromatography of D-arabinitol, a fungal metabolite, in human serum. Science. 1979 Nov 2;206(4418):577-80. [PubMed ]
Irritable bowel syndrome 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00197 Indoleacetic acid Blood; CSF; Urine Bearcroft CP, Perrett D, Farthing MJ: Postprandial plasma 5-hydroxytryptamine in diarrhoea predominant irritable bowel syndrome: a pilot study. Gut. 1998 Jan;42(1):42-6. [PubMed ]
Ischemic heart disease 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03252 Thromboxane B2 Blood; CSF; Urine Renda G, Tacconelli S, Capone ML, Sacchetta D, Santarelli F, Sciulli MG, Zimarino M, Grana M, D'Amelio E, Zurro M, Price TS, Patrono C, De Caterina R, Patrignani P: Celecoxib, ibuprofen, and the antiplatelet effect of aspirin in patients with osteoarthritis and ischemic heart disease. Clin Pharmacol Ther. 2006 Sep;80(3):264-74. [PubMed ]
Isopropyl alcohol poisoning 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00863 Isopropyl alcohol Blood; CSF Vicas IM, Beck R: Fatal inhalational isopropyl alcohol poisoning in a neonate. J Toxicol Clin Toxicol. 1993;31(3):473-81. [PubMed ]
Isovaleric acidemia (OMIM: 243500 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00562 Creatinine Amniotic Fluid; Blood; CSF; Saliva; Urine Metagene: ISOVALERIC ACIDEMIA HMDB00678 Isovalerylglycine Blood; Urine 17850781 [PubMed ]
Juvenile myoclonic epilepsy (OMIM: 606904 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00192 L-Cystine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
Ketosis 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00354 2-Methyl-3-hydroxybutyric acid Urine Metagene: KETOSIS, UNSPECIFIC [DD] HMDB00060 Acetoacetic acid Blood; Cellular Cytoplasm; CSF; Urine Metagene: KETOSIS, UNSPECIFIC [DD]
Kidney cancer 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04029 11-Dehydrocorticosterone Blood Tortorella C, Aragona F, Nussdorfer GG: In vivo evidence that human adrenal glands possess 11 beta-hydroxysteroid dehydrogenase activity. Life Sci. 1999;65(26):2823-7. [PubMed ]
Kidney disease 27 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6. [PubMed ] HMDB01563 1-Methylguanosine Blood; Urine Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6. [PubMed ] HMDB00001 1-Methylhistidine Blood; CSF; Saliva; Urine Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ] HMDB00750 3-Hydroxymandelic acid Blood; Urine Nieren- und Hochdruckkrankheiten (1978), 7(2), 62-74 (translated from German Kidney and Hypertension). HMDB00479 3-Methylhistidine Blood; CSF; Urine Raj DS, Ouwendyk M, Francoeur R, Pierratos A: Plasma amino acid profile on nocturnal hemodialysis. Blood Purif. 2000;18(2):97-102. [PubMed ] HMDB04814 4-Heptanone Blood; Urine Liebich HM, Woll J: Volatile substances in blood serum: profile analysis and quantitative determination. J Chromatogr. 1977 Nov 11;142:505-16. [PubMed ] HMDB03333 8-Hydroxy-deoxyguanosine Blood; Urine Stenvinkel P, Rodriguez-Ayala E, Massy ZA, Qureshi AR, Barany P, Fellstrom B, Heimburger O, Lindholm B, Alvestrand A: Statin treatment and diabetes affect myeloperoxidase activity in maintenance hemodialysis patients. Clin J Am Soc Nephrol. 2006 Mar;1(2):281-7. Epub 2006 Feb 1. [PubMed ] HMDB01659 Acetone Blood; CSF; Urine Liebich HM, Woll J: Volatile substances in blood serum: profile analysis and quantitative determination. J Chromatogr. 1977 Nov 11;142:505-16. [PubMed ] HMDB02322 Cadaverine Blood; Urine Takagi T, Chung TG, Saito A: Determination of polyamines in hydrolysates of uremic plasma by high-performance cation-exchange column chromatography. J Chromatogr. 1983 Feb 11;272(2):279-85. [PubMed ] HMDB00098 D-Xylose Blood; Urine Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ] HMDB00038 Dihydrobiopterin Blood; CSF Yokoyama K, Tajima M, Yoshida H, Nakayama M, Tokutome G, Sakagami H, Hosoya T: Plasma pteridine concentrations in patients with chronic renal failure. Nephrol Dial Transplant. 2002 Jun;17(6):1032-6. [PubMed ] HMDB01539 Dimethyl-L-arginine Blood; CSF; Urine Fleck C, Schweitzer F, Karge E, Busch M, Stein G: Serum concentrations of asymmetric (ADMA) and symmetric (SDMA) dimethylarginine in patients with chronic kidney diseases. Clin Chim Acta. 2003 Oct;336(1-2):1-12. [PubMed ] HMDB00087 Dimethylamine Blood; CSF; Saliva; Urine Teerlink T, Hennekes MW, Mulder C, Brulez HF: Determination of dimethylamine in biological samples by high-performance liquid chromatography. J Chromatogr B Biomed Sci Appl. 1997 Apr 11;691(2):269-76. [PubMed ] HMDB00092 Dimethylglycine Blood; Urine McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed ] HMDB00108 Ethanol Blood; CSF; Saliva; Urine Liebich HM, Woll J: Volatile substances in blood serum: profile analysis and quantitative determination. J Chromatogr. 1977 Nov 11;142:505-16. [PubMed ] HMDB00870 Histamine Blood; CSF; Urine Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ] HMDB04363 Imidazolone Blood Butscheid M, Schafer C, Brenner S, Alscher D, Murdter T, Niwa T, Frischmann M, Pischetsrieder M, Klotz U: Unchanged serum levels of advanced glycation endproducts in patients with liver disease. Naunyn Schmiedebergs Arch Pharmacol. 2007 Aug;375(6):401-6. Epub 2007 Jun 15. [PubMed ] HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6. [PubMed ] HMDB02923 Isomaltose Blood Burke RA, Moberly JB, Patel H, Shockley TR, Martis L: Maltose and isomaltose in uremic plasma following icodextrin administration. Adv Perit Dial. 1998;14:120-3. [PubMed ] HMDB00452 L-Alpha-aminobutyric acid Blood; CSF; Urine Chuang CK, Lin SP, Chen HH, Chen YC, Wang TJ, Shieh WH, Wu CJ: Plasma free amino acids and their metabolites in Taiwanese patients on hemodialysis and continuous ambulatory peritoneal dialysis. Clin Chim Acta. 2006 Feb;364(1-2):209-16. Epub 2005 Aug 8. [PubMed ] HMDB04824 N2,N2-Dimethylguanosine Blood; Urine Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6. [PubMed ] HMDB02878 Nitrate Blood; CSF Galley HF, Le Cras AE, Yassen K, Grant IS, Webster NR: Circulating tetrahydrobiopterin concentrations in patients with septic shock. Br J Anaesth. 2001 Apr;86(4):578-80. [PubMed ] HMDB00209 Phenylacetic acid Blood; CSF; Urine Jankowski J, van der Giet M, Jankowski V, Schmidt S, Hemeier M, Mahn B, Giebing G, Tolle M, Luftmann H, Schluter H, Zidek W, Tepel M: Increased plasma phenylacetic acid in patients with end-stage renal failure inhibits iNOS expression. J Clin Invest. 2003 Jul;112(2):256-64. [PubMed ] HMDB03334 Symmetric dimethylarginine Blood; Urine Fleck C, Schweitzer F, Karge E, Busch M, Stein G: Serum concentrations of asymmetric (ADMA) and symmetric (SDMA) dimethylarginine in patients with chronic kidney diseases. Clin Chim Acta. 2003 Oct;336(1-2):1-12. [PubMed ] HMDB00906 Trimethylamine Blood; CSF; Saliva; Urine Bain MA, Faull R, Milne RW, Evans AM: Oral L-carnitine: metabolite formation and hemodialysis. Curr Drug Metab. 2006 Oct;7(7):811-6. [PubMed ] HMDB00925 Trimethylamine N-oxide Blood; Saliva; Urine Bain MA, Faull R, Milne RW, Evans AM: Oral L-carnitine: metabolite formation and hemodialysis. Curr Drug Metab. 2006 Oct;7(7):811-6. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine Paniagua R, Claure R, Amato D, Flores E, Perez A, Exaire E: Effects of oral administration of zinc and diiodohydroxyquinolein on plasma zinc levels of uremic patients. Nephron. 1995;69(2):147-50. [PubMed ]
Kidney transplantation 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03933 Pentosidine Blood; CSF Yoshida K, Yoneda T, Fujimoto K, Hirao Y, Konishi N: Pentosidine and its deposition in renal tissue in renal transplantation. Transplant Proc. 2005 Dec;37(10):4266-72. [PubMed ]
Kynureninase deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00881 Xanthurenic acid Blood; Urine Christensen M, Duno M, Lund AM, Skovby F, Christensen E: Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. J Inherit Metab Dis. 2007 Apr;30(2):248-55. Epub 2007 Mar 1. [PubMed ]
L-2-hydroxyglutaric aciduria (OMIM: 236792 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00694 L-2-Hydroxyglutaric acid Blood; CSF; Urine Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C: Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res. 1993 Sep;34(3):277-80. [PubMed ]
Leigh's syndrome, subacute necrotizing encephalopathy, SNE (OMIM: 256000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Metagene: LEIGH%60S SYNDROME, SUBACUTE NECROTIZING ENCEPHALOPATHY, SNE
Lesch-Nyhan syndrome (OMIM: 300322 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00132 Guanine Cellular Cytoplasm; Urine Ohdoi C, Nyhan WL, Kuhara T: Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):123-30. [PubMed ] HMDB00157 Hypoxanthine Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Harkness RA, McCreanor GM, Watts RW: Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. J Inherit Metab Dis. 1988;11(3):239-52. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Metagene: LESCH-NYHAN SYNDROME [PubMed ] HMDB00296 Uridine Blood; CSF; Urine Harkness RA, McCreanor GM, Watts RW: Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. J Inherit Metab Dis. 1988;11(3):239-52. [PubMed ] HMDB00292 Xanthine Blood; CSF; Urine Harkness RA, McCreanor GM, Watts RW: Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF. J Inherit Metab Dis. 1988;11(3):239-52. [PubMed ]
Leukemia 24 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00002 1,3-Diaminopropane Blood; Urine Lee SH, Suh JW, Chung BC, Kim SO: Polyamine profiles in the urine of patients with leukemia. Cancer Lett. 1998 Jan 9;122(1-2):1-8. [PubMed ] HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ] HMDB01855 5-Hydroxytryptophol Blood; CSF Curtius HC, Wolfensberger M, Redweik U, Leimbacher W, Maibach RA, Isler W: Mass fragmentography of 5-hydroxytryptophol and 5-methoxytryptophol in human cerebrospinal fluid. J Chromatogr. 1975 Oct 29;112:523-31. [PubMed ] HMDB01896 5-Methoxytryptophol Blood; CSF Curtius HC, Wolfensberger M, Redweik U, Leimbacher W, Maibach RA, Isler W: Mass fragmentography of 5-hydroxytryptophol and 5-methoxytryptophol in human cerebrospinal fluid. J Chromatogr. 1975 Oct 29;112:523-31. [PubMed ] HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00517 L-Arginine Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00168 L-Asparagine Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00641 L-Glutamine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00177 L-Histidine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00687 L-Leucine Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00696 L-Methionine Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00167 L-Threonine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00214 Ornithine Blood; CSF; Saliva; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ] HMDB00209 Phenylacetic acid Blood; CSF; Urine Silvennoinen R, Malminiemi K, Malminiemi O, Seppala E, Vilpo J: Pharmacokinetics of chlorambucil in patients with chronic lymphocytic leukaemia: comparison of different days, cycles and doses. Pharmacol Toxicol. 2000 Nov;87(5):223-8. [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Peng CT, Wu KH, Lan SJ, Tsai JJ, Tsai FJ, Tsai CH: Amino acid concentrations in cerebrospinal fluid in children with acute lymphoblastic leukemia undergoing chemotherapy. Eur J Cancer. 2005 May;41(8):1158-63. Epub 2005 Apr 14. [PubMed ]
Leukoencephalopathy 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00751 L-Threo-2-pentulose Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ]
Lipid peroxidation 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB05047 9E,11E-Octadecadienoic acid Blood Thompson S, Smith MT: Measurement of the diene conjugated form of linoleic acid in plasma by high performance liquid chromatography: a questionable non-invasive assay of free radical activity? Chem Biol Interact. 1985 Nov;55(3):357-66. [PubMed ]
Liver disease 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00643 Coproporphyrin I Blood; Urine Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ] HMDB00570 Coproporphyrin III Blood; Urine Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ] HMDB00693 Heparan sulfate Blood McKee RF, Hodson S, Dawes J, Garden OJ, Carter DC: Plasma concentrations of endogenous heparinoids in portal hypertension. Gut. 1992 Nov;33(11):1549-52. [PubMed ] HMDB00737 Heptacarboxylporphyrin I Urine Zuijderhoudt FM, Koehorst SG, Kluitenberg WE, Dorresteijn-de Bok J: On accuracy and precision of a HPLC method for measurement of urine porphyrin concentrations. Clin Chem Lab Med. 2000 Mar;38(3):227-30. [PubMed ] HMDB03227 Methanethiol Blood Fabbri EL, Hamner LH 3rd: Congenital complete heart block associated with maternal anti-Ro antibody: a case report. J Perinatol. 1992 Sep;12(3):225-8. [PubMed ]
Long chain acyl-CoA dehydrogenase deficiency (LCAD) (OMIM: 201460 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00893 Suberic acid Blood; CSF; Urine Metagene: LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD)
Long-chain-3-hydroxyacyl CoA dehydrogenase deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00521 5Z-Tetradecenoic acid Blood Divry P, Vianey-Saban C, Mathieu M: Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects. J Inherit Metab Dis. 1999 May;22(3):286-8. [PubMed ]
Lung Cancer (OMIM: 211980 ) 34 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00699 1-Methylnicotinamide Blood; Urine HMP Experimental HMDB00754 3-Hydroxyisovaleric acid Blood; CSF; Urine HMP experimental HMDB00042 Acetic acid Blood; CSF; Urine HMDB01659 Acetone Blood; CSF; Urine HMP experimental HMDB00448 Adipic acid Blood; CSF; Urine HMP experimental HMDB00729 Alpha-Hydroxyisobutyric acid Blood; Urine HMP expermental HMDB00043 Betaine Blood; Urine HMP experimental HMDB00097 Choline Blood; Breast Milk; CSF; Saliva; Urine HMP experimental HMDB00072 cis-Aconitic acid CSF; Urine HMP experimental HMDB00094 Citric acid Blood; CSF; Urine HMP experiment HMDB00064 Creatine Blood; CSF; Urine HMDB00098 D-Xylose Blood; Urine HMP experimental HMDB00108 Ethanol Blood; CSF; Saliva; Urine HMP experimental HMDB00142 Formic acid Blood; CSF; Urine HMP experimental HMDB00134 Fumaric acid Blood; CSF; Urine HMP experiment HMDB00640 Glucosan Urine HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine HMDB00115 Glycolic acid Blood; CSF; Urine HMP experimental HMDB00714 Hippuric acid Blood; CSF; Urine HMP experimental HMDB00157 Hypoxanthine Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine HMP experimental HMDB00161 L-Alanine Blood; CSF; Saliva; Urine HMP experimental HMDB00062 L-Carnitine Blood; CSF; Urine HMP experimental HMDB00883 L-Valine Blood; CSF; Saliva; Urine HMDB00765 Mannitol Blood; CSF; Urine HMP Experimental HMDB00020 p-Hydroxyphenylacetic acid Blood; CSF; Saliva; Urine HMP experimental HMDB01881 Propylene glycol Blood; CSF; Saliva; Urine HMP experimental HMDB00840 Salicyluric acid Blood; Urine HMDB00254 Succinic acid Blood; CSF; Saliva; Urine HMP expermental HMDB00258 Sucrose Blood; Urine HMDB00956 Tartaric acid Urine HMDB00251 Taurine Bile; Blood; CSF; Urine HMDB00958 trans-Aconitic acid Urine HMDB00875 Trigonelline Urine HMDB00925 Trimethylamine N-oxide Blood; Saliva; Urine
Lysinuric protein intolerance (OMIM: 222700 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00517 L-Arginine Blood; CSF; Urine Metagene: LYSINURIC PROTEIN INTOLERANCE (LPI) HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Metagene: LYSINURIC PROTEIN INTOLERANCE (LPI) HMDB00214 Ornithine Blood; CSF; Saliva; Urine Metagene: LYSINURIC PROTEIN INTOLERANCE (LPI)
Macular degeneration 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03638 Cadmium Blood; CSF; Urine Erie JC, Good JA, Butz JA, Hodge DO, Pulido JS: Urinary cadmium and age-related macular degeneration. Am J Ophthalmol. 2007 Sep;144(3):414-418. Epub 2007 Jul 13. [PubMed ]
Major depressive disorder (OMIM: 608516 ) 8 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Sheline Y, Bardgett ME, Csernansky JG: Correlated reductions in cerebrospinal fluid 5-HIAA and MHPG concentrations after treatment with selective serotonin reuptake inhibitors. J Clin Psychopharmacol. 1997 Feb;17(1):11-4. [PubMed ] HMDB03759 5a-Pregnane-3,20-dione Blood Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB01449 Allopregnanolone Blood; CSF 9501247 [PubMed ] HMDB02961 Dihydrotestosterone Blood; CSF Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Sheline Y, Bardgett ME, Csernansky JG: Correlated reductions in cerebrospinal fluid 5-HIAA and MHPG concentrations after treatment with selective serotonin reuptake inhibitors. J Clin Psychopharmacol. 1997 Feb;17(1):11-4. [PubMed ] HMDB01830 Progesterone Blood; CSF Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB00879 Tetrahydrodeoxycorticosterone Blood; Urine Nieminen LR, Makino KK, Mehta N, Virkkunen M, Kim HY, Hibbeln JR: Relationship between omega-3 fatty acids and plasma neuroactive steroids in alcoholism, depression and controls. Prostaglandins Leukot Essent Fatty Acids. 2006 Oct-Nov;75(4-5):309-14. Epub 2006 Sep 7. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Sheline Y, Bardgett ME, Csernansky JG: Correlated reductions in cerebrospinal fluid 5-HIAA and MHPG concentrations after treatment with selective serotonin reuptake inhibitors. J Clin Psychopharmacol. 1997 Feb;17(1):11-4. [PubMed ]
Malaria (OMIM: 248310 ) 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01091 3-Hydroxyquinine Blood Pukrittayakamee S, Pitisuttithum P, Zhang H, Jantra A, Wanwimolruk S, White NJ: Effects of cigarette smoking on quinine pharmacokinetics in malaria. Eur J Clin Pharmacol. 2002 Aug;58(5):315-9. Epub 2002 Jun 20. [PubMed ] HMDB00715 Kynurenic acid Blood; CSF; Urine 11865422 [PubMed ] HMDB02786 Nitrite Blood; CSF; Saliva Agbenyega T, Angus B, Bedu-Addo G, Baffoe-Bonnie B, Griffin G, Vallance P, Krishna S: Plasma nitrogen oxides and blood lactate concentrations in Ghanaian children with malaria. Trans R Soc Trop Med Hyg. 1997 May-Jun;91(3):298-302. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine 11865422 [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine 11865422 [PubMed ] HMDB02825 Theobromine Blood; CSF; Urine Akinyinka OO, Sowunmi A, Honeywell R, Renwick AG: The effects of acute falciparum malaria on the disposition of caffeine and the comparison of saliva and plasma-derived pharmacokinetic parameters in adult Nigerians. Eur J Clin Pharmacol. 2000 May;56(2):159-65. [PubMed ]
Malonyl-Coa decarboxylase deficiency (OMIM: 248360 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00622 Ethylmalonic acid CSF; Urine Metagene: MALONYL-COA DECARBOXYLASE DEFICIENCY HMDB00691 Malonic acid Blood; Urine Metagene: MALONYL-COA DECARBOXYLASE DEFICIENCY HMDB02095 Malonylcarnitine Blood 12651823 [PubMed ] HMDB00202 Methylmalonic acid Blood; CSF; Urine Metagene: MALONYL-COA DECARBOXYLASE DEFICIENCY
Maple syrup urine disease (OMIM: 248600 ) 10 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00407 2-Hydroxy-3-methylbutyric acid Blood; CSF; Urine Metagene: MAPLE SYRUP URINE DISEASE HMDB00491 3-Methyl-2-oxovaleric acid Blood; CSF; Urine Schadewaldt P, Hammen HW, Ott AC, Wendel U: Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease. J Inherit Metab Dis. 1999 Aug;22(6):706-22. [PubMed ] HMDB00019 Alpha-ketoisovaleric acid Blood; CSF; Urine Metagene: MAPLE SYRUP URINE DISEASE HMDB00603 cis-4-Decenedioic acid Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00746 Hydroxyisocaproic acid Urine Metagene: MAPLE SYRUP URINE DISEASE HMDB00557 L-Alloisoleucine Blood Schadewaldt P, Bodner-Leidecker A, Hammen HW, Wendel U: Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease. Clin Chem. 1999 Oct;45(10):1734-40. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Metagene: MAPLE SYRUP URINE DISEASE HMDB00687 L-Leucine Blood; CSF; Urine Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed ]
Mastocytosis (OMIM: 154800 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00898 1-Methylhistamine Blood; CSF; Urine Martens-Lobenhoffer J, Neumann HJ: Determination of 1-methylhistamine and 1-methylimidazoleacetic acid in human urine as a tool for the diagnosis of mastocytosis. J Chromatogr B Biomed Sci Appl. 1999 Jan 8;721(1):135-40. [PubMed ] HMDB02820 Methylimidazoleacetic acid Blood; CSF; Urine Martens-Lobenhoffer J, Neumann HJ: Determination of 1-methylhistamine and 1-methylimidazoleacetic acid in human urine as a tool for the diagnosis of mastocytosis. J Chromatogr B Biomed Sci Appl. 1999 Jan 8;721(1):135-40. [PubMed ]
Medium Chain Acyl-CoA Dehydrogenase Deficiency (OMIM: 201450 ) 9 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00341 2-Octenedioic acid Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00387 3-Hydroxydodecanoic acid Blood Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ: Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb;46(2):149-55. [PubMed ] HMDB00525 5-Hydroxyhexanoic acid Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00486 7-Hydroxyoctanoic acid Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00603 cis-4-Decenedioic acid Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB04981 cis-4-Decenoic acid Blood Johnson DW, Harrison JR, Norton WA, Poulos A, Robertson EF: Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1994;17(5):554-9. [PubMed ] HMDB00701 Hexanoylglycine Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00860 Phenylpropionylglycine Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) HMDB00953 Suberylglycine Urine Metagene: MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD)
Melanoma (OMIM: 155600 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03192 5-Aminoimidazole-4-carboxamide Blood; Urine Breithaupt H, Dammann A, Aigner K: Pharmacokinetics of dacarbazine (DTIC) and its metabolite 5-aminoimidazole-4-carboxamide (AIC) following different dose schedules. Cancer Chemother Pharmacol. 1982;9(2):103-9. [PubMed ]
Meningitis 15 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00011 (R)-3-Hydroxybutyric acid Blood; CSF; Urine Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed ] HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB01904 3-Nitrotyrosine Blood; CSF Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed ] HMDB00060 Acetoacetic acid Blood; Cellular Cytoplasm; CSF; Urine Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed ] HMDB04259 Acetyl-N-formyl-5-methoxykynurenamine Blood; CSF Silva SO, Ximenes VF, Livramento JA, Catalani LH, Campa A: High concentrations of the melatonin metabolite, N1-acetyl-N2-formyl-5-methoxykynuramine, in cerebrospinal fluid of patients with meningitis: a possible immunomodulatory mechanism. J Pineal Res. 2005 Oct;39(3):302-6. [PubMed ] HMDB00034 Adenine Blood; CSF; Urine Rodriguez-Nunez A, Cid E, Rodriguez-Garcia J, Camina F, Rodriguez-Segade S, Castro-Gago M: Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis. Brain Dev. 2003 Mar;25(2):102-6. [PubMed ] HMDB00462 Allantoin Blood; CSF; Urine Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed ] HMDB00044 Ascorbic acid Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed ] HMDB00058 Cyclic AMP Blood; CSF; Urine Lerche A, Svenson M, Wiik A: Cerebrospinal fluid levels of cyclic nucleotides in meningitis and idiopathic polyneuritis. Acta Neurol Scand. 1984 Mar;69(3):168-75. [PubMed ] HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine 9542731 [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ] HMDB00243 Pyruvic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed ] HMDB00294 Urea Blood; Cellular Cytoplasm; CSF; Urine Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Kastenbauer S, Koedel U, Becker BF, Pfister HW: Oxidative stress in bacterial meningitis in humans. Neurology. 2002 Jan 22;58(2):186-91. [PubMed ]
Menkes disease (OMIM: 309400 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00318 3,4-Dihydroxyphenylglycol Blood; CSF; Urine Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N: Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7;358(6):605-14. [PubMed ] HMDB00657 Copper Blood; CSF; Urine Metagene: MENKES SYNDROME
Menstrual cycle 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00151 Estradiol Blood; CSF; Saliva; Urine The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999. HMDB00145 Estrone Blood; Urine The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999.
Metachromatic leukodystrophy (OMIM: 250100 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00024 3-O-Sulfogalactosylceramide (d18:1/24:0) Urine Natowicz MR, Prence EM, Chaturvedi P, Newburg DS: Urine sulfatides and the diagnosis of metachromatic leukodystrophy. Clin Chem. 1996 Feb;42(2):232-8. [PubMed ] HMDB04866 Lactosylceramide (d18:1/12:0) Blood Tanaka H, Suzuki K: Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and GM1-gangliosidosis. Clin Chim Acta. 1977 Mar 1;75(2):267-74. [PubMed ]
Methanol poisoning 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00142 Formic acid Blood; CSF; Urine 6837328 [PubMed ]
Methionine adenosyltransferase deficiency (OMIM: 250850 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00696 L-Methionine Blood; CSF; Urine Metagene: METHIONINE ADENOSYL TRANSFERASE DEFICIENCY
Methotrexate treatment 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00996 3-Sulfinoalanine Blood; CSF Quinn CT, Griener JC, Bottiglieri T, Hyland K, Farrow A, Kamen BA: Elevation of homocysteine and excitatory amino acid neurotransmitters in the CSF of children who receive methotrexate for the treatment of cancer. J Clin Oncol. 1997 Aug;15(8):2800-6. [PubMed ]
Methyl formate exposure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00142 Formic acid Blood; CSF; Urine Berode M, Sethre T, Laubli T, Savolainen H: Urinary methanol and formic acid as indicators of occupational exposure to methyl formate. Int Arch Occup Environ Health. 2000 Aug;73(6):410-4. [PubMed ]
Methylenetetrahydrofolate reductase deficiency (OMIM: 236250 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00575 DL-Homocystine Blood; Urine Metagene: HOMOCYSTINURIA DUE TO DEFECT OF N(5,10)-METHYLENE THF DEFICIENCY
Methylmalonic acidemia (OMIM: 251000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00575 DL-Homocystine Blood; Urine Andersson HC, Shapira E: Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). J Pediatr. 1998 Jan;132(1):121-4. [PubMed ]
Migraine (OMIM: 157300 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01897 Substance P Blood; CSF; Urine Fusayasu E, Kowa H, Takeshima T, Nakaso K, Nakashima K: Increased plasma substance P and CGRP levels, and high ACE activity in migraineurs during headache-free periods. Pain. 2007 Apr;128(3):209-14. Epub 2006 Nov 22. [PubMed ]
Mild cognitive impairment 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Shafaati M, Salomon A, Kivipelto M, Bjorkhem I, Wahlund LO: Are the CSF levels of 24S-hydroxycholesterol a sensitive biomarker for mild cognitive impairment? Neurosci Lett. 2006 Apr 10-17;397(1-2):83-7. Epub 2006 Jan 6. [PubMed ]
Morphine treatment 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00500 4-Hydroxybenzoic acid CSF; Urine Goudas LC, Langlade A, Serrie A, Matson W, Milbury P, Thurel C, Sandouk P, Carr DB: Acute decreases in cerebrospinal fluid glutathione levels after intracerebroventricular morphine for cancer pain. Anesth Analg. 1999 Nov;89(5):1209-15. [PubMed ] HMDB00755 Hydroxyphenyllactic acid Blood; CSF; Urine Goudas LC, Langlade A, Serrie A, Matson W, Milbury P, Thurel C, Sandouk P, Carr DB: Acute decreases in cerebrospinal fluid glutathione levels after intracerebroventricular morphine for cancer pain. Anesth Analg. 1999 Nov;89(5):1209-15. [PubMed ]
Motor neuron disease 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB02786 Nitrite Blood; CSF; Saliva Shukla R, Rajani M, Barthwal MK, Srivastava N, Dikshit M: Cerebrospinal fluid nitrite and malondialdehyde levels in patients with motor neuron disease. Int J Neurosci. 2003 Aug;113(8):1043-54. [PubMed ]
Mucopolysaccharidosis IVA (OMIM: 253000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01165 Keratan Blood Tomatsu S, Okamura K, Taketani T, Orii KO, Nishioka T, Gutierrez MA, Velez-Castrillon S, Fachel AA, Grubb JH, Cooper A, Thornley M, Wraith E, Barrera LA, Giugliani R, Schwartz IV, Frenking GS, Beck M, Kircher SG, Paschke E, Yamaguchi S, Ullrich K, Isogai K, Suzuki Y, Orii T, Kondo N, Creer M, Noguchi A: Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA. Pediatr Res. 2004 Apr;55(4):592-7. Epub 2004 Jan 7. [PubMed ]
Multi-infarct dementia 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00895 Acetylcholine CSF; Urine Jia JP, Jia JM, Zhou WD, Xu M, Chu CB, Yan X, Sun YX: Differential acetylcholine and choline concentrations in the cerebrospinal fluid of patients with Alzheimer's disease and vascular dementia. Chin Med J (Engl). 2004 Aug;117(8):1161-4. [PubMed ] HMDB00097 Choline Blood; Breast Milk; CSF; Saliva; Urine Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB00086 Glycerophosphocholine Blood; Breast Milk; CSF; Semen Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB03933 Pentosidine Blood; CSF Bar KJ, Franke S, Wenda B, Muller S, Kientsch-Engel R, Stein G, Sauer H: Pentosidine and N(epsilon)-(carboxymethyl)-lysine in Alzheimer's disease and vascular dementia. Neurobiol Aging. 2003 Mar-Apr;24(2):333-8. [PubMed ] HMDB01565 Phosphorylcholine Blood; Breast Milk; CSF Walter A, Korth U, Hilgert M, Hartmann J, Weichel O, Hilgert M, Fassbender K, Schmitt A, Klein J: Glycerophosphocholine is elevated in cerebrospinal fluid of Alzheimer patients. Neurobiol Aging. 2004 Nov-Dec;25(10):1299-303. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Wallin A, Blennow K, Edman A, Mansson JE: Decreased lumbar cerebrospinal fluid levels of monoamine metabolites in vascular dementia. Int Psychogeriatr. 1996 Fall;8(3):425-36. [PubMed ]
Multiple acyl-CoA dehydrogenase deficiency (OMIM: 231680 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00521 5Z-Tetradecenoic acid Blood Divry P, Vianey-Saban C, Mathieu M: Determination of total fatty acids in plasma: cis-5-tetradecenoic acid (C14:1 omega-9) in the diagnosis of long-chain fatty acid oxidation defects. J Inherit Metab Dis. 1999 May;22(3):286-8. [PubMed ]
Multiple myeloma (OMIM: 254500 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00569 Deoxypyridinoline Blood; Urine Dizdar O, Barista I, Kalyoncu U, Karadag O, Hascelik G, Cila A, Pinar A, Celik I, Kars A, Tekuzman G: Biochemical markers of bone turnover in diagnosis of myeloma bone disease. Am J Hematol. 2007 Mar;82(3):185-91. [PubMed ]
Multiple sclerosis (OMIM: 126200 ) 39 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF 15061359 [PubMed ] HMDB00501 7-Ketocholesterol Blood; CSF Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed ] HMDB01496 7a-Hydroxycholesterol Blood; CSF Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed ] HMDB06119 7b-Hydroxycholesterol Blood; CSF Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed ] HMDB00042 Acetic acid Blood; CSF; Urine Lutz NW, Viola A, Malikova I, Confort-Gouny S, Audoin B, Ranjeva JP, Pelletier J, Cozzone PJ: Inflammatory multiple-sclerosis plaques generate characteristic metabolic profiles in cerebrospinal fluid. PLoS ONE. 2007 Jul 4;2(7):e595. [PubMed ] HMDB01247 Aluminum Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB04118 Antimony Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB04142 Barium Blood; CSF; Urine 16244396 [PubMed ] HMDB02196 Bismuth Blood Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB03638 Cadmium Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00464 Calcium Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Leoni V, Lutjohann D, Masterman T: Levels of 7-oxocholesterol in cerebrospinal fluid are more than one thousand times lower than reported in multiple sclerosis. J Lipid Res. 2005 Feb;46(2):191-5. Epub 2004 Dec 1. [PubMed ] HMDB00599 Chromium Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00608 Cobalt Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00657 Copper Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00125 Glutathione Blood; Cellular Cytoplasm; CSF; Urine Calabrese V, Scapagnini G, Ravagna A, Bella R, Butterfield DA, Calvani M, Pennisi G, Giuffrida Stella AM: Disruption of thiol homeostasis and nitrosative stress in the cerebrospinal fluid of patients with active multiple sclerosis: evidence for a protective role of acetylcarnitine. Neurochem Res. 2003 Sep;28(9):1321-8. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB00692 Iron Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00574 L-Cysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB04628 Lead Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB05949 Lithium Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00547 Magnesium Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01333 Manganese Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB03625 Mercury Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01302 Molybdenum Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB00845 Neopterin Blood; CSF; Urine Shaw CE, Dunbar PR, Macaulay HA, Neale TJ: Measurement of immune markers in the serum and cerebrospinal fluid of multiple sclerosis patients during clinical remission. J Neurol. 1995 Jan;242(2):53-8. [PubMed ] HMDB02457 Nickel Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB03337 Oxidized glutathione Blood; CSF Calabrese V, Scapagnini G, Ravagna A, Bella R, Butterfield DA, Calvani M, Pennisi G, Giuffrida Stella AM: Disruption of thiol homeostasis and nitrosative stress in the cerebrospinal fluid of patients with active multiple sclerosis: evidence for a protective role of acetylcarnitine. Neurochem Res. 2003 Sep;28(9):1321-8. [PubMed ] HMDB02179 Peroxynitrite CSF Calabrese V, Scapagnini G, Ravagna A, Bella R, Butterfield DA, Calvani M, Pennisi G, Giuffrida Stella AM: Disruption of thiol homeostasis and nitrosative stress in the cerebrospinal fluid of patients with active multiple sclerosis: evidence for a protective role of acetylcarnitine. Neurochem Res. 2003 Sep;28(9):1321-8. [PubMed ] HMDB02175 Silicon Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB03642 Strontium Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01960 Tin Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01966 Titanium Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01989 Tungsten Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB02012 Ubiquinone Q1 Blood Syburra C, Passi S: Oxidative stress in patients with multiple sclerosis. Ukr Biokhim Zh. 1999 May-Jun;71(3):112-5. [PubMed ] HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Toncev G, Milicic B, Toncev S, Samardzic G: Serum uric acid levels in multiple sclerosis patients correlate with activity of disease and blood-brain barrier dysfunction. Eur J Neurol. 2002 May;9(3):221-6. [PubMed ] HMDB02503 Vanadium Blood; CSF Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine Forte G, Visconti A, Santucci S, Ghazaryan A, Figa-Talamanca L, Cannoni S, Bocca B, Pino A, Violante N, Alimonti A, Salvetti M, Ristori G: Quantification of chemical elements in blood of patients affected by multiple sclerosis. Ann Ist Super Sanita. 2005;41(2):213-6. [PubMed ]
Multiple system atrophy 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB05199 (R)-Salsolinol Blood; CSF Naoi M, Maruyama W: Cell death of dopamine neurons in aging and Parkinson's disease. Mech Ageing Dev. 1999 Nov;111(2-3):175-88. [PubMed ] HMDB03892 (S)-N-Methylsalsolinol CSF Naoi M, Maruyama W: Cell death of dopamine neurons in aging and Parkinson's disease. Mech Ageing Dev. 1999 Nov;111(2-3):175-88. [PubMed ]
Mycobacterium tuberculosis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04085 Tuberculostearic acid Almenoff PL, Brooks JB, Johnson A, Lesser M: Differentiation of sarcoidosis from tuberculosis by use of electron capture gas-liquid chromatography. Lung. 1996;174(6):349-58. [PubMed ]
Myocardial infarction 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01885 3-Chlorotyrosine Blood; Urine Mocatta TJ, Pilbrow AP, Cameron VA, Senthilmohan R, Frampton CM, Richards AM, Winterbourn CC: Plasma concentrations of myeloperoxidase predict mortality after myocardial infarction. J Am Coll Cardiol. 2007 May 22;49(20):1993-2000. Epub 2007 May 4. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ] HMDB00027 Tetrahydrobiopterin Blood; CSF Yada T, Kaji S, Akasaka T, Mochizuki S, Ogasawara Y, Tanemoto K, Yoshida K, Kajiya F: Changes of asymmetric dimethylarginine, nitric oxide, tetrahydrobiopterin, and oxidative stress in patients with acute myocardial infarction by medical treatments. Clin Hemorheol Microcirc. 2007;37(3):269-76. [PubMed ]
N-acetylglutamate synthetase deficiency (OMIM: 608300 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00904 Citrulline Blood; CSF; Urine Metagene: N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY HMDB00226 Orotic acid Amniotic Fluid; Blood; Urine Metagene: N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY. NAGS DEFICIENCY
Narcolepsy (OMIM: 161400 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00118 Homovanillic acid Blood; CSF; Urine Strittmatter M, Isenberg E, Grauer MT, Hamann G, Schimrigk K: CSF substance P somatostatin and monoaminergic transmitter metabolites in patients with narcolepsy. Neurosci Lett. 1996 Nov 1;218(2):99-102. [PubMed ]
Neonatal hepatitis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Nephrotic syndrome 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01438 25-Hydroxyvitamin D2 Blood; Urine Sato KA, Gray RW, Lemann J Jr: Urinary excretion of 25-hydroxyvitamin D in health and the nephrotic syndrome. J Lab Clin Med. 1982 Mar;99(3):325-30. [PubMed ] HMDB03550 Calcidiol Blood; Urine Goldstein DA, Haldimann B, Sherman D, Norman AW, Massry SG: Vitamin D metabolites and calcium metabolism in patients with nephrotic syndrome and normal renal function. J Clin Endocrinol Metab. 1981 Jan;52(1):116-21. [PubMed ] HMDB00870 Histamine Blood; CSF; Urine Gill DS, Fonseca VA, Barradas MA, Balliod R, Moorhead JF, Dandona P: Plasma histamine in patients with chronic renal failure and nephrotic syndrome. J Clin Pathol. 1991 Mar;44(3):243-5. [PubMed ]
Neuroblastoma (OMIM: 256700 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04932 Ganglioside GD2 (d18:1/24:0) Blood Yamanaka T, Hirabayashi Y, Hirota M, Kaneko M, Matsumoto M, Kobayashi N: Detection of gangliotriaose-series glycosphingolipids in serum of cord blood and patients with neuroblastoma by a sensitive TLC/enzyme-immunostaining method. Biochim Biophys Acta. 1987 Jul 31;920(2):181-4. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Levreri I, Caruso U, Deiana F, Buoncompagni A, De Bernardi B, Marchese N, Melioli G: The secretion of ibuprofen metabolites interferes with the capillary chromatography of urinary homovanillic acid and 4-hydroxy-3-methoxymandelic acid in neuroblastoma diagnosis. Clin Chem Lab Med. 2005;43(2):173-7. [PubMed ] HMDB01900 Ribonolactone Urine Gates SC, Sweeley CC, Krivit W, DeWitt D, Blaisdell BE: Automated metabolic profiling of organic acids in human urine. II. Analysis of urine samples from "healthy" adults, sick children, and children with neuroblastoma. Clin Chem. 1978 Oct;24(10):1680-9. [PubMed ]
Neuroborreliosis 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ]
Neurodegenerative disease 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00939 S-Adenosylhomocysteine Blood; CSF Obeid R, Kostopoulos P, Knapp JP, Kasoha M, Becker G, Fassbender K, Herrmann W: Biomarkers of folate and vitamin B12 are related in blood and cerebrospinal fluid. Clin Chem. 2007 Feb;53(2):326-33. Epub 2007 Jan 2. [PubMed ] HMDB01185 S-Adenosylmethionine Blood; CSF; Urine Obeid R, Kostopoulos P, Knapp JP, Kasoha M, Becker G, Fassbender K, Herrmann W: Biomarkers of folate and vitamin B12 are related in blood and cerebrospinal fluid. Clin Chem. 2007 Feb;53(2):326-33. Epub 2007 Jan 2. [PubMed ]
Neuroinfection 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00538 Adenosine triphosphate Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01341 ADP Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01201 Guanosine diphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01273 Guanosine triphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
Normal 14 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04242 11-Dehydro-thromboxane B2 Blood; Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB02776 13,14-Dihydro-15-keto-PGE2 Blood; Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB02277 2,3-Dinor-6-keto-prostaglandin F1 a Blood; Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB02904 2,3-Dinor-TXB2 Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB02886 6-Keto-prostaglandin F1a Blood; CSF; Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB00053 Androstenedione Blood; CSF; Urine The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999. HMDB00628 Epitestosterone Blood Kicman AT, Coutts SB, Cowan DA, Handelsman DJ, Howe CJ, Burring S, Wu FC: Adrenal and gonadal contributions to urinary excretion and plasma concentration of epitestosterone in men--effect of adrenal stimulation and implications for detection of testosterone abuse. Clin Endocrinol (Oxf). 1999 May;50(5):661-8. [PubMed ] HMDB00145 Estrone Blood; Urine The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999. HMDB01830 Progesterone Blood; CSF The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999. HMDB01220 Prostaglandin E2 Blood; CSF; Urine Farker K, Schweer H, Vollandt R, Nassr N, Nagel U, Seyberth HW, Hoffmann A, Oettel M: Measurements of urinary prostaglandins in young ovulatory women during the menstrual cycle and in postmenopausal women. Prostaglandins. 1997 Sep;54(3):655-64. [PubMed ] HMDB00256 Squalene Blood Rajaratnam RA, Gylling H, Miettinen TA: Serum squalene in postmenopausal women without and with coronary artery disease. Atherosclerosis. 1999 Sep;146(1):61-4. [PubMed ] HMDB11709 TG(15:0/18:1(9Z)/18:3(9Z,12Z,15Z))[iso6] Blood Psychogios N, Hau DD, Peng J, Guo AC, Mandal R, Bouatra S, Sinelnikov I, Krishnamurthy R, Eisner R, Gautam B, Young N, Xia J, Knox C, Dong E, Huang P, Hollander Z, Pedersen TL, Smith SR, Bamforth F, Greiner R, McManus B, Newman JW, Goodfriend T, Wishart DS: The human serum metabolome. PLoS One. 2011 Feb 16;6(2):e16957. [PubMed ] Wishart DS, Knox C, Guo AC, Eisner R, Young N, Gautam B, Hau DD, Psychogios N, Dong E, Bouatra S, Mandal R, Sinelnikov I, Xia J, Jia L, Cruz JA, Lim E, Sobsey CA, Shrivastava S, Huang P, Liu P, Fang L, Peng J, Fradette R, Cheng D, Tzur D, Clements M, Lewis A, De Souza A, Zuniga A, Dawe M, Xiong Y, Clive D, Greiner R, Nazyrova A, Shaykhutdinov R, Li L, Vogel HJ, Forsythe I: HMDB: a knowledgebase for the human metabolome. Nucleic Acids Res. 2008 Oct 25. [PubMed ] HMDB03252 Thromboxane B2 Blood; CSF; Urine 9373880 [PubMed ] HMDB02728 Thyroxine sulfate Blood Chopra IJ, Santini F, Hurd RE, Chua Teco GN: A radioimmunoassay for measurement of thyroxine sulfate. J Clin Endocrinol Metab. 1993 Jan;76(1):145-50. [PubMed ]
Obesity (OMIM: 601665 ) 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00001 1-Methylhistidine Blood; CSF; Saliva; Urine Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ] HMDB00357 3-Hydroxybutyric acid Blood; Cellular Cytoplasm; CSF; Urine Vice E, Privette JD, Hickner RC, Barakat HA: Ketone body metabolism in lean and obese women. Metabolism. 2005 Nov;54(11):1542-5. [PubMed ] HMDB00479 3-Methylhistidine Blood; CSF; Urine Tuma P, Samcova E, Balinova P: Determination of 3-methylhistidine and 1-methylhistidine in untreated urine samples by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Jul 5;821(1):53-9. [PubMed ] HMDB01425 Estrone sulfate Blood; Urine Brind J, Strain G, Miller L, Zumoff B, Vogelman J, Orentreich N: Obese men have elevated plasma levels of estrone sulfate. Int J Obes. 1990 Jun;14(6):483-6. [PubMed ] HMDB04969 Glucosylceramide (d18:1/12:0) Blood Serlie MJ, Meijer AJ, Groener JE, Duran M, Endert E, Fliers E, Aerts JM, Sauerwein HP: Short-term manipulation of plasma free fatty acids does not change skeletal muscle concentrations of ceramide and glucosylceramide in lean and overweight subjects. J Clin Endocrinol Metab. 2007 Apr;92(4):1524-9. Epub 2007 Jan 30. [PubMed ] HMDB01319 Pyridoxine 5'-phosphate Blood Driskell JA, Chrisley BM, Reynolds LK, Moak SW: Plasma B6 vitamer and plasma and urinary 4-pyridoxic acid concentrations of middle-aged obese black women. J Chromatogr. 1991 Aug 23;568(2):333-40. [PubMed ]
Oculocerebrorenal syndrome (OMIM: 309000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00122 D-Glucose Blood; Breast Milk; CSF; Saliva; Urine Zebrower ME, Kieras FJ, Brown WT: Analysis by high-performance liquid chromatography of hyaluronic acid and chondroitin sulfates. Anal Biochem. 1986 Aug 15;157(1):93-9. [PubMed ]
Olivopontocerebral atrophy 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ] HMDB00235 Thiamine Blood; CSF; Urine 1538220 [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Botez MI, Young SN: Biogenic amine metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias. Can J Neurol Sci. 2001 May;28(2):134-40. [PubMed ]
Ornithine transcarbamylase deficiency (OMIM: 311250 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00214 Ornithine Blood; CSF; Saliva; Urine Harada E, Nishiyori A, Tokunaga Y, Watanabe Y, Kuriya N, Kumashiro R, Kuno T, Kuromaru R, Hirose S, Ichikawa K, Yoshino M: Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile. Pediatr Int. 2006 Apr;48(2):105-11. [PubMed ]
Orotic aciduria I (OMIM: 258900 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00226 Orotic acid Amniotic Fluid; Blood; Urine Metagene: OROTIC ACIDURIA, HEREDITARY
Osteoporosis (OMIM: 166710 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00600 Galactosylhydroxylysine Blood; Urine Lo Cascio V, Bertoldo F, Gambaro G, Gasperi E, Furlan F, Colapietro F, Lo Cascio C, Campagnola M: Urinary galactosyl-hydroxylysine in postmenopausal osteoporotic women: A potential marker of bone fragility. J Bone Miner Res. 1999 Aug;14(8):1420-4. [PubMed ] HMDB03598 Retinyl ester Blood Penniston KL, Weng N, Binkley N, Tanumihardjo SA: Serum retinyl esters are not elevated in postmenopausal women with and without osteoporosis whose preformed vitamin A intakes are high. Am J Clin Nutr. 2006 Dec;84(6):1350-6. [PubMed ]
Ovarian cancer 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ] HMDB00405 2-Methoxyestradiol Blood; Urine Lakhani NJ, Lepper ER, Sparreboom A, Dahut WL, Venitz J, Figg WD: Determination of 2-methoxyestradiol in human plasma, using liquid chromatography/tandem mass spectrometry. Rapid Commun Mass Spectrom. 2005;19(9):1176-82. [PubMed ]
Oxidative stress 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01904 3-Nitrotyrosine Blood; CSF Rossner P Jr, Svecova V, Milcova A, Lnenickova Z, Solansky I, Santella RM, Sram RJ: Oxidative and nitrosative stress markers in bus drivers. Mutat Res. 2007 Apr 1;617(1-2):23-32. Epub 2007 Feb 4. [PubMed ]
Paget's disease (OMIM: 602080 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00600 Galactosylhydroxylysine Blood; Urine Al-Dehaimi AW, Blumsohn A, Eastell R: Serum galactosyl hydroxylysine as a biochemical marker of bone resorption. Clin Chem. 1999 May;45(5):676-81. [PubMed ]
Pancreatic cancer (OMIM: 260350 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01414 Putrescine Blood; CSF; Saliva; Urine Loser C, Folsch UR, Paprotny C, Creutzfeldt W: Polyamine concentrations in pancreatic tissue, serum, and urine of patients with pancreatic cancer. Pancreas. 1990 Mar;5(2):119-27. [PubMed ]
Panic disorder (OMIM: 167870 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00118 Homovanillic acid Blood; CSF; Urine Eriksson E, Westberg P, Alling C, Thuresson K, Modigh K: Cerebrospinal fluid levels of monoamine metabolites in panic disorder. Psychiatry Res. 1991 Mar;36(3):243-51. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine Eriksson E, Westberg P, Alling C, Thuresson K, Modigh K: Cerebrospinal fluid levels of monoamine metabolites in panic disorder. Psychiatry Res. 1991 Mar;36(3):243-51. [PubMed ]
Paraquat poisoning 7 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01659 Acetone Blood; CSF; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00094 Citric acid Blood; CSF; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00562 Creatinine Amniotic Fluid; Blood; CSF; Saliva; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00714 Hippuric acid Blood; CSF; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00190 L-Lactic acid Bile; Blood; Cellular Cytoplasm; CSF; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Bairaktari E, Katopodis K, Siamopoulos KC, Tsolas O: Paraquat-induced renal injury studied by 1H nuclear magnetic resonance spectroscopy of urine. Clin Chem. 1998 Jun;44(6 Pt 1):1256-61. [PubMed ]
Parkinson's disease (OMIM: 168600 ) 43 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03626 (R)-N-Methylsalsolinol CSF Zhang W, Xie Y, Gu J, Ai S, Wang J, Yamamoto K, Jin L: Liquid chromatography with amperometric detection at a nano crystalline Ce-doped lead dioxide film modified electrode for determination of (R)-Salsolinol, (R)-N-methylsalsolinol and monoamine neurotransmitters in Parkinsonian patients' cerebrospinal fluid. Analyst. 2004 Mar;129(3):229-34. Epub 2004 Feb 6. [PubMed ] HMDB05199 (R)-Salsolinol Blood; CSF Zhang W, Xie Y, Gu J, Ai S, Wang J, Yamamoto K, Jin L: Liquid chromatography with amperometric detection at a nano crystalline Ce-doped lead dioxide film modified electrode for determination of (R)-Salsolinol, (R)-N-methylsalsolinol and monoamine neurotransmitters in Parkinsonian patients' cerebrospinal fluid. Analyst. 2004 Mar;129(3):229-34. Epub 2004 Feb 6. [PubMed ] HMDB03892 (S)-N-Methylsalsolinol CSF Naoi M, Maruyama W: Cell death of dopamine neurons in aging and Parkinson's disease. Mech Ageing Dev. 1999 Nov;111(2-3):175-88. [PubMed ] HMDB04087 1-Benzyl-1,2,3,4-tetrahydroisoquinoline CSF Kotake Y, Tasaki Y, Makino Y, Ohta S, Hirobe M: 1-Benzyl-1,2,3,4-tetrahydroisoquinoline as a parkinsonism-inducing agent: a novel endogenous amine in mouse brain and parkinsonian CSF. J Neurochem. 1995 Dec;65(6):2633-8. [PubMed ] HMDB02017 1-Phenylethylamine Blood; CSF; Urine Miura Y: Plasma beta-phenylethylamine in Parkinson's disease. Kurume Med J. 2000;47(4):267-72. [PubMed ] HMDB01189 2(N)-Methyl-norsalsolinol Moser A, Scholz J, Nobbe F, Vieregge P, Bohme V, Bamberg H: Presence of N-methyl-norsalsolinol in the CSF: correlations with dopamine metabolites of patients with Parkinson's disease. J Neurol Sci. 1995 Aug;131(2):183-9. [PubMed ] HMDB00022 3-Methoxytyramine Blood; CSF; Urine Loeffler DA, LeWitt PA, DeMaggio AJ, Juneau PL, Milbury PE, Matson WR: Markers of dopamine depletion and compensatory response in striatum and cerebrospinal fluid. J Neural Transm Park Dis Dement Sect. 1995;9(1):45-53. [PubMed ] HMDB04362 4-Hydroxynonenal Blood; CSF; Urine Selley ML: (E)-4-hydroxy-2-nonenal may be involved in the pathogenesis of Parkinson's disease. Free Radic Biol Med. 1998 Jul 15;25(2):169-74. [PubMed ] HMDB12162 4-Methoxytyramine Blood Ishimitsu T, Hirose S, Asahara K, Imaizumi M: The formation of 3-hydroxy-4-methoxyphenylalanine and 3-hydroxy-4-methoxyphenethylamine in plasma during L-DOPA therapy in patients with Parkinson's disease. Chem Pharm Bull (Tokyo). 1984 Aug;32(8):3320-2. [PubMed ] HMDB02044 8-Hydroxyguanosine Blood; CSF Abe T, Isobe C, Murata T, Sato C, Tohgi H: Alteration of 8-hydroxyguanosine concentrations in the cerebrospinal fluid and serum from patients with Parkinson's disease. Neurosci Lett. 2003 Jan 16;336(2):105-8. [PubMed ] HMDB01893 Alpha-Tocopherol Blood; Breast Milk; CSF; Urine Pappert EJ, Tangney CC, Goetz CG, Ling ZD, Lipton JW, Stebbins GT, Carvey PM: Alpha-tocopherol in the ventricular cerebrospinal fluid of Parkinson's disease patients: dose-response study and correlations with plasma levels. Neurology. 1996 Oct;47(4):1037-42. [PubMed ] HMDB01247 Aluminum Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB04142 Barium Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB02387 Beryllium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB02196 Bismuth Blood Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB03638 Cadmium Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00464 Calcium Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00599 Chromium Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00608 Cobalt Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00657 Copper Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine Levin J, Botzel K, Giese A, Vogeser M, Lorenzl S: Elevated levels of methylmalonate and homocysteine in Parkinson's disease, progressive supranuclear palsy and amyotrophic lateral sclerosis. Dement Geriatr Cogn Disord. 2010 Jul;29(6):553-9. Epub 2010 Jul 3. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine LeWitt PA, Galloway MP, Matson W, Milbury P, McDermott M, Srivastava DK, Oakes D: Markers of dopamine metabolism in Parkinson's disease. The Parkinson Study Group. Neurology. 1992 Nov;42(11):2111-7. [PubMed ] HMDB00692 Iron Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00192 L-Cystine Blood; CSF; Urine Engelborghs S, Marescau B, De Deyn PP: Amino acids and biogenic amines in cerebrospinal fluid of patients with Parkinson's disease. Neurochem Res. 2003 Aug;28(8):1145-50. [PubMed ] HMDB04628 Lead Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB05949 Lithium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00547 Magnesium Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB06112 Malondialdehyde Blood; CSF; Urine Shukla R, Rajani M, Srivastava N, Barthwal MK, Dikshit M: Nitrite and malondialdehyde content in cerebrospinal fluid of patients with Parkinson's disease. Int J Neurosci. 2006 Dec;116(12):1391-402. [PubMed ] HMDB01333 Manganese Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB03625 Mercury Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB01302 Molybdenum Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB02457 Nickel Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00939 S-Adenosylhomocysteine Blood; CSF Cheng H, Gomes-Trolin C, Aquilonius SM, Steinberg A, Lofberg C, Ekblom J, Oreland L: Levels of L-methionine S-adenosyltransferase activity in erythrocytes and concentrations of S-adenosylmethionine and S-adenosylhomocysteine in whole blood of patients with Parkinson's disease. Exp Neurol. 1997 Jun;145(2 Pt 1):580-5. [PubMed ] HMDB00259 Serotonin Blood; CSF; Urine Engelborghs S, Marescau B, De Deyn PP: Amino acids and biogenic amines in cerebrospinal fluid of patients with Parkinson's disease. Neurochem Res. 2003 Aug;28(8):1145-50. [PubMed ] HMDB02175 Silicon Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB03642 Strontium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Engelborghs S, Marescau B, De Deyn PP: Amino acids and biogenic amines in cerebrospinal fluid of patients with Parkinson's disease. Neurochem Res. 2003 Aug;28(8):1145-50. [PubMed ] HMDB01960 Tin Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB01966 Titanium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB01989 Tungsten Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB02503 Vanadium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB01303 Zinc Blood; CSF; Urine Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ] HMDB01475 Zirconium Blood; CSF Forte G, Alimonti A, Pino A, Stanzione P, Brescianini S, Brusa L, Sancesario G, Violante N, Bocca B: Metals and oxidative stress in patients with Parkinson's disease. Ann Ist Super Sanita. 2005;41(2):189-95. [PubMed ]
Pellagra 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00699 1-Methylnicotinamide Blood; Urine Creeke PI, Dibari F, Cheung E, van den Briel T, Kyroussis E, Seal AJ: Whole blood NAD and NADP concentrations are not depressed in subjects with clinical pellagra. J Nutr. 2007 Sep;137(9):2013-7. [PubMed ] HMDB04193 N1-Methyl-2-pyridone-5-carboxamide Urine Creeke PI, Dibari F, Cheung E, van den Briel T, Kyroussis E, Seal AJ: Whole blood NAD and NADP concentrations are not depressed in subjects with clinical pellagra. J Nutr. 2007 Sep;137(9):2013-7. [PubMed ] HMDB00902 NAD Blood; Cellular Cytoplasm Creeke PI, Dibari F, Cheung E, van den Briel T, Kyroussis E, Seal AJ: Whole blood NAD and NADP concentrations are not depressed in subjects with clinical pellagra. J Nutr. 2007 Sep;137(9):2013-7. [PubMed ]
Pentosuria (OMIM: 260800 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01644 D-Xylulose Blood; CSF; Urine Metagene: PENTOSURIA. ESSENTIAL BENIGN PENTOSURIA
Perillyl alcohol administration for cancer treatment 10 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00002 1,3-Diaminopropane Blood; Urine Byun JA, Lee SH, Jung BH, Choi MH, Moon MH, Chung BC: Analysis of polyamines as carbamoyl derivatives in urine and serum by liquid chromatography-tandem mass spectrometry. Biomed Chromatogr. 2008 Jan;22(1):73-80. [PubMed ] HMDB01563 1-Methylguanosine Blood; Urine Zheng YF, Kong HW, Xiong JH, Lv S, Xu GW: Clinical significance and prognostic value of urinary nucleosides in breast cancer patients. Clin Biochem. 2005 Jan;38(1):24-30. [PubMed ] HMDB00335 16a-Hydroxyestrone Blood Cauley JA, Zmuda JM, Danielson ME, Ljung BM, Bauer DC, Cummings SR, Kuller LH: Estrogen metabolites and the risk of breast cancer in older women. Epidemiology. 2003 Nov;14(6):740-4. [PubMed ] HMDB05056 Enterodiol Urine Grace PB, Mistry NS, Carter MH, Leathem AJ, Teale P: High throughput quantification of phytoestrogens in human urine and serum using liquid chromatography/tandem mass spectrometry (LC-MS/MS). J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Jun 15;853(1-2):138-46. Epub 2007 Mar 18. [PubMed ] HMDB06101 Enterolactone Urine Grace PB, Mistry NS, Carter MH, Leathem AJ, Teale P: High throughput quantification of phytoestrogens in human urine and serum using liquid chromatography/tandem mass spectrometry (LC-MS/MS). J Chromatogr B Analyt Technol Biomed Life Sci. 2007 Jun 15;853(1-2):138-46. Epub 2007 Mar 18. [PubMed ] HMDB01276 N1-Acetylspermidine Blood; Urine Byun JA, Lee SH, Jung BH, Choi MH, Moon MH, Chung BC: Analysis of polyamines as carbamoyl derivatives in urine and serum by liquid chromatography-tandem mass spectrometry. Biomed Chromatogr. 2008 Jan;22(1):73-80. [PubMed ] HMDB02189 N8-Acetylspermidine Blood; Urine Byun JA, Lee SH, Jung BH, Choi MH, Moon MH, Chung BC: Analysis of polyamines as carbamoyl derivatives in urine and serum by liquid chromatography-tandem mass spectrometry. Biomed Chromatogr. 2008 Jan;22(1):73-80. [PubMed ] HMDB04586 Perillic acid Blood Zhang Z, Chen H, Chan KK, Budd T, Ganapathi R: Gas chromatographic-mass spectrometric analysis of perillyl alcohol and metabolites in plasma. J Chromatogr B Biomed Sci Appl. 1999 May 14;728(1):85-95. [PubMed ] HMDB03634 Perillyl alcohol Blood Zhang Z, Chen H, Chan KK, Budd T, Ganapathi R: Gas chromatographic-mass spectrometric analysis of perillyl alcohol and metabolites in plasma. J Chromatogr B Biomed Sci Appl. 1999 May 14;728(1):85-95. [PubMed ] HMDB00884 Ribothymidine Blood; Urine Zheng YF, Kong HW, Xiong JH, Lv S, Xu GW: Clinical significance and prognostic value of urinary nucleosides in breast cancer patients. Clin Biochem. 2005 Jan;38(1):24-30. [PubMed ]
Peripheral neuropathy 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01920 Dextromethorphan Blood; CSF Thisted RA, Klaff L, Schwartz SL, Wymer JP, Culligan NW, Gerard G, Pope LE, Berg JE: Dextromethorphan and quinidine in adult patients with uncontrolled painful diabetic peripheral neuropathy: a 29-day, multicenter, open-label, dose-escalation study. Clin Ther. 2006 Oct;28(10):1607-18. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB00574 L-Cysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ]
Peripheral vascular disease 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04362 4-Hydroxynonenal Blood; CSF; Urine Signorelli SS, Fatuzzo P, Rapisarda F, Neri S, Ferrante M, Oliveri Conti G, Fallico R, Di Pino L, Pennisi G, Celotta G, Massimiliano A: A randomised, controlled clinical trial evaluating changes in therapeutic efficacy and oxidative parameters after treatment with propionyl L-carnitine in patients with peripheral arterial disease requiring haemodialysis. Drugs Aging. 2006;23(3):263-70. [PubMed ]
Peritoneal dialysis 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00163 D-Maltose Blood; Urine Garcia-Lopez E, Anderstam B, Heimburger O, Amici G, Werynski A, Lindholm B: Determination of high and low molecular weight molecules of icodextrin in plasma and dialysate, using gel filtration chromatography, in peritoneal dialysis patients. Perit Dial Int. 2005 Mar-Apr;25(2):181-91. [PubMed ] HMDB01296 Maltotetraose Blood Garcia-Lopez E, Anderstam B, Heimburger O, Amici G, Werynski A, Lindholm B: Determination of high and low molecular weight molecules of icodextrin in plasma and dialysate, using gel filtration chromatography, in peritoneal dialysis patients. Perit Dial Int. 2005 Mar-Apr;25(2):181-91. [PubMed ] HMDB01262 Maltotriose Blood Garcia-Lopez E, Anderstam B, Heimburger O, Amici G, Werynski A, Lindholm B: Determination of high and low molecular weight molecules of icodextrin in plasma and dialysate, using gel filtration chromatography, in peritoneal dialysis patients. Perit Dial Int. 2005 Mar-Apr;25(2):181-91. [PubMed ]
Peroxisomal biogenesis defect (OMIM: 214100 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB06111 12-HETE Blood; CSF; Urine Metagene: ZELLWEGER SYNDROME HMDB03876 15(S)-HETE Blood; CSF; Urine Metagene: ZELLWEGER SYNDROME HMDB00716 L-Pipecolic acid Blood Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine 3769211 [PubMed ] [PubMed ] [PubMed ] HMDB02163 Trihydroxycoprostanoic acid Blood Watkins PA, Chen WW, Harris CJ, Hoefler G, Hoefler S, Blake DC Jr, Balfe A, Kelley RI, Moser AB, Beard ME, et al.: Peroxisomal bifunctional enzyme deficiency. J Clin Invest. 1989 Mar;83(3):771-7. [PubMed ]
Peroxisomal disorders, new type, liver 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02356 Hexacosanoic acid Blood Metagene: PEROXISOMAL DISORDERS, NEW TYPE, LIVER HMDB00801 Phytanic acid Blood Metagene: PEROXISOMAL DISORDERS, NEW TYPE, LIVER HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Metagene: PEROXISOMAL DISORDERS, NEW TYPE, LIVER
Phenylketonuria (OMIM: 261600 ) 15 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00374 17-Hydroxyprogesterone Blood; Saliva; Urine Elvers LH, Loeber JG, Dhondt JL, Fukushi M, Hannon WH, Torresani T, Webster D: First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17alpha-hydroxyprogesterone in blood spots. J Inherit Metab Dis. 2007 Aug;30(4):609. Epub 2007 Jun 14. [PubMed ] HMDB00440 3-Hydroxyphenylacetic acid Blood; CSF; Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00707 4-Hydroxyphenylpyruvic acid Blood; Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00078 Cysteinylglycine Blood; CSF; Saliva; Urine Perry TL, Hansen S: Cystinylglycine in plasma: diagnostic relevance for pyroglutamic acidemia, homocystinuria, and phenylketonuria. Clin Chim Acta. 1981 Nov 25;117(1):7-12. [PubMed ] HMDB00594 Glutamylphenylalanine Urine Peck H, Pollitt RJ: The occurrence of gamma-glutamylphenylalanine in the urine of newborn phenylketonurics. Clin Chim Acta. 1979 Jun 15;94(3):237-40. [PubMed ] HMDB00755 Hydroxyphenyllactic acid Blood; CSF; Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00748 L-3-Phenyllactic acid Blood Clemens PC, Schunemann MH, Hoffmann GF, Kohlschutter A: Plasma concentrations of phenyllactic acid in phenylketonuria. J Inherit Metab Dis. 1990;13(2):227-8. [PubMed ] HMDB00687 L-Leucine Blood; CSF; Urine Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine 12101068 [PubMed ] HMDB00883 L-Valine Blood; CSF; Saliva; Urine Deng C, Shang C, Hu Y, Zhang X: Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Jul 25;775(1):115-20. [PubMed ] HMDB00703 Mandelic acid Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00669 Ortho-Hydroxyphenylacetic acid Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00209 Phenylacetic acid Blood; CSF; Urine Monch E, Kneer J, Jakobs C, Arnold M, Diehl H, Batzler U: Examination of urine metabolites in the newborn period and during protein loading tests at 6 months of age--Part 1. Eur J Pediatr. 1990;149 Suppl 1:S17-24. [PubMed ] HMDB00779 Phenyllactic acid Blood; Urine Metagene: PHENYLKETONURIA (PKU) [PubMed ] [PubMed ] HMDB00205 Phenylpyruvic acid Blood; Urine 6790852 [PubMed ] [PubMed ]
Pheochromocytoma (OMIM: 171300 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02028 DOPA sulfate Kuchel O, Buu NT, Edwards DJ: Alternative catecholamine pathways after tyrosine hydroxylase inhibition in malignant pheochromocytoma. J Lab Clin Med. 1990 Apr;115(4):449-53. [PubMed ] HMDB00068 Epinephrine Blood; CSF; Urine Eisenhofer G, Keiser H, Friberg P, Mezey E, Huynh TT, Hiremagalur B, Ellingson T, Duddempudi S, Eijsbouts A, Lenders JW: Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. J Clin Endocrinol Metab. 1998 Jun;83(6):2175-85. [PubMed ] HMDB04063 Metanephrine Blood; CSF; Urine Eisenhofer G, Keiser H, Friberg P, Mezey E, Huynh TT, Hiremagalur B, Ellingson T, Duddempudi S, Eijsbouts A, Lenders JW: Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. J Clin Endocrinol Metab. 1998 Jun;83(6):2175-85. [PubMed ] HMDB00216 Norepinephrine Blood; CSF; Urine Eisenhofer G, Keiser H, Friberg P, Mezey E, Huynh TT, Hiremagalur B, Ellingson T, Duddempudi S, Eijsbouts A, Lenders JW: Plasma metanephrines are markers of pheochromocytoma produced by catechol-O-methyltransferase within tumors. J Clin Endocrinol Metab. 1998 Jun;83(6):2175-85. [PubMed ]
Polycystic ovary syndrome (OMIM: 184700 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00053 Androstenedione Blood; CSF; Urine Berria R, Gastaldelli A, Lucidi S, Belfort R, De Filippis E, Easton C, Brytzki R, Cusi K, Jovanovic L, DeFronzo R: Reduction in hematocrit level after pioglitazone treatment is correlated with decreased plasma free testosterone level, not hemodilution, in women with polycystic ovary syndrome. Clin Pharmacol Ther. 2006 Aug;80(2):105-14. Epub 2006 Jun 30. [PubMed ] HMDB01032 DHEA sulfate Blood; Urine Yildiz BO, Woods KS, Stanczyk F, Bartolucci A, Azziz R: Stability of adrenocortical steroidogenesis over time in healthy women and women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2004 Nov;89(11):5558-62. [PubMed ]
Porphyria 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00643 Coproporphyrin I Blood; Urine Hindmarsh JT, Oliveras L, Greenway DC: Biochemical differentiation of the porphyrias. Clin Biochem. 1999 Nov;32(8):609-19. [PubMed ] HMDB00570 Coproporphyrin III Blood; Urine Hindmarsh JT, Oliveras L, Greenway DC: Biochemical differentiation of the porphyrias. Clin Biochem. 1999 Nov;32(8):609-19. [PubMed ] HMDB02158 Coproporphyrinogen I Blood Gorchein A, Guo R, Lim CK, Raimundo A, Pullon HW, Bellingham AJ: Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal. Biomed Chromatogr. 1998 Nov-Dec;12(6):350-6. [PubMed ] HMDB00245 Porphobilinogen Blood; Urine Floderus Y, Sardh E, Moller C, Andersson C, Rejkjaer L, Andersson DE, Harper P: Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. Clin Chem. 2006 Apr;52(4):701-7. Epub 2006 Feb 23. [PubMed ]
Portal vein obstruction 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Postpartum depression 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00253 Pregnenolone Blood; CSF Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed ]
Pregnancy 10 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04685 13,14-Dihydro-15-keto PGF2a Blood Yang XL, Wu XR: The dynamic changes of several reproductive hormones during termination of early pregnancy by RU486 in combination with PG-05 in Chinese women. Adv Contracept. 1988 Dec;4(4):319-26. [PubMed ] HMDB00343 2-Hydroxyestrone Blood; Urine Ball P, Emons G, Haupt O, Hoppen HO, Knuppen R: Radioimmunoassay of 2-hydroxyestrone. Steroids. 1978 Feb;31(2):249-58. [PubMed ] HMDB00153 Estriol Amniotic Fluid; Blood; Urine Andreolini F, Borra C, Caccamo F, Di Corcia A, Nicoletti I, Samperi R, Improta F: Estriol and its conjugates in late pregnancy determined by extraction with Carbopack B and liquid chromatography with fluorometric detection. Clin Chem. 1985 Oct;31(10):1698-702. [PubMed ] HMDB10356 Estriol 3-sulfate 16-glucuronide Amniotic Fluid; Blood; Urine Andreolini F, Borra C, Caccamo F, Di Corcia A, Nicoletti I, Samperi R, Improta F: Estriol and its conjugates in late pregnancy determined by extraction with Carbopack B and liquid chromatography with fluorometric detection. Clin Chem. 1985 Oct;31(10):1698-702. [PubMed ] HMDB06766 Estriol-16-Glucuronide Urine Yang YJ, Lee J, Choi MH, Chung BC: Direct determination of estriol 3- and 16-glucuronides in pregnancy urine by column-switching liquid chromatography with electrospray tandem mass spectrometry. Biomed Chromatogr. 2003 Jun;17(4):219-25. [PubMed ] HMDB10335 Estriol-3-glucuronide Amniotic Fluid; Blood; Urine 12833386 [PubMed ] HMDB02030 Fructosamine Blood; Saliva Khan HA, Sobki SH, Alhomida AS: Fluctuations in fasting blood glucose and serum fructosamine in pregnant women monitored on successive antenatal visits. Clin Exp Med. 2006 Oct;6(3):134-7. [PubMed ] HMDB02120 Monoethyl phthalate Saliva; Urine Huang PC, Kuo PL, Guo YL, Liao PC, Lee CC: Associations between urinary phthalate monoesters and thyroid hormones in pregnant women. Hum Reprod. 2007 Oct;22(10):2715-22. Epub 2007 Aug 17. [PubMed ] HMDB01830 Progesterone Blood; CSF The Merck Manual, 17th ed. Mark H. Beers, MD, Robert Berkow, MD, eds. Whitehouse Station, NJ: Merck Research Labs, 1999. HMDB00269 Sphinganine Blood; Urine Ribar S, Mesaric M, Sedic M: Sphingoid bases as possible diagnostic parameters. Croat Med J. 2003 Apr;44(2):165-70. [PubMed ]
Pregnene hydroxylation deficiency 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01830 Progesterone Blood; CSF Shackleton C, Malunowicz E: Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome. Steroids. 2003 Oct;68(9):707-17. [PubMed ]
Premenstrual dysphoric disorder 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01455 Alloepipregnanolone Blood Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed ] HMDB00253 Pregnenolone Blood; CSF Epperson CN, Haga K, Mason GF, Sellers E, Gueorguieva R, Zhang W, Weiss E, Rothman DL, Krystal JH: Cortical gamma-aminobutyric acid levels across the menstrual cycle in healthy women and those with premenstrual dysphoric disorder: a proton magnetic resonance spectroscopy study. Arch Gen Psychiatry. 2002 Sep;59(9):851-8. [PubMed ]
Prepartum depression 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03759 5a-Pregnane-3,20-dione Blood Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed ] HMDB01449 Allopregnanolone Blood; CSF Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed ] HMDB01471 Epipregnanolone Blood Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed ] HMDB00253 Pregnenolone Blood; CSF Pearson Murphy BE, Steinberg SI, Hu FY, Allison CM: Neuroactive ring A-reduced metabolites of progesterone in human plasma during pregnancy: elevated levels of 5 alpha-dihydroprogesterone in depressed patients during the latter half of pregnancy. J Clin Endocrinol Metab. 2001 Dec;86(12):5981-7. [PubMed ]
Preterm birth 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04030 21-Deoxycortisol Blood Janzen N, Peter M, Sander S, Steuerwald U, Terhardt M, Holtkamp U, Sander J: Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab. 2007 Jul;92(7):2581-9. Epub 2007 Apr 24. [PubMed ] HMDB00866 N-Acetyl-L-tyrosine Blood; Urine Van Goudoever JB, Sulkers EJ, Timmerman M, Huijmans JG, Langer K, Carnielli VP, Sauer PJ: Amino acid solutions for premature neonates during the first week of life: the role of N-acetyl-L-cysteine and N-acetyl-L-tyrosine. JPEN J Parenter Enteral Nutr. 1994 Sep-Oct;18(5):404-8. [PubMed ]
Primary biliary cirrhosis (OMIM: 109720 ) 13 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00326 1b,3a,12a-Trihydroxy-5b-cholanoic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB05047 9E,11E-Octadecadienoic acid Blood Braganza JM, Day JP: Serum octadeca-9-11 dienoic acid concentrations in primary biliary cirrhosis. Lancet. 1987 Apr 25;1(8539):987. [PubMed ] HMDB00518 Chenodeoxycholic acid Bile; Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00619 Cholic acid Bile; Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00626 Deoxycholic acid Bile; Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB02719 Desmosterol Blood; Semen Nikkila K, Hockerstedt K, Miettinen TA: High cholestanol and low campesterol-to-sitosterol ratio in serum of patients with primary biliary cirrhosis before liver transplantation. Hepatology. 1991 Apr;13(4):663-9. [PubMed ] HMDB00760 Hyocholic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00733 Hyodeoxycholic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00686 Isoursodeoxycholic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00761 Lithocholic acid Bile; Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00205 Phenylpyruvic acid Blood; Urine Turchany JM, Leung PS, Iwayama T, Jefferson DM, Ishida J, Yamaguchi M, Munoz S, Danner DJ, Dickson ER, Gershwin ME: Comparative metabolism and structure of BCKD-E2 in primary biliary cirrhosis. J Autoimmun. 1993 Aug;6(4):459-66. [PubMed ] HMDB00917 Ursocholic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ] HMDB00946 Ursodeoxycholic acid Blood; Urine Batta AK, Arora R, Salen G, Tint GS, Eskreis D, Katz S: Characterization of serum and urinary bile acids in patients with primary biliary cirrhosis by gas-liquid chromatography-mass spectrometry: effect of ursodeoxycholic acid treatment. J Lipid Res. 1989 Dec;30(12):1953-62. [PubMed ]
Primary hyperoxaluria 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00139 Glyceric acid Blood; CSF; N/A; Urine Dietzen DJ, Wilhite TR, Kenagy DN, Milliner DS, Smith CH, Landt M: Extraction of glyceric and glycolic acids from urine with tetrahydrofuran: utility in detection of primary hyperoxaluria. Clin Chem. 1997 Aug;43(8 Pt 1):1315-20. [PubMed ]
Primary hyperoxaluria I, PH1 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00115 Glycolic acid Blood; CSF; Urine Metagene: PRIMARY HYPEROXALURIA I, PH1 HMDB00119 Glyoxylic acid Blood; CSF; Urine Metagene: PRIMARY HYPEROXALURIA I, PH1 HMDB02329 Oxalic acid Blood; Urine Metagene: PRIMARY HYPEROXALURIA I, PH1
Primary hyperoxaluria II, PH2 (OMIM: 260000 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00139 Glyceric acid Blood; CSF; N/A; Urine Metagene: PRIMARY HYPEROXALURIA II, PH2
Primary hypomagnesemia (OMIM: 248250 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00464 Calcium Blood; CSF; Urine Metagene: PRIMARY HYPOMAGNESEMIA HMDB00547 Magnesium Blood; CSF; Urine Metagene: PRIMARY HYPOMAGNESEMIA
Progressive supranuclear palsy 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00742 Homocysteine Blood; CSF; Urine Levin J, Botzel K, Giese A, Vogeser M, Lorenzl S: Elevated levels of methylmalonate and homocysteine in Parkinson's disease, progressive supranuclear palsy and amyotrophic lateral sclerosis. Dement Geriatr Cogn Disord. 2010 Jul;29(6):553-9. Epub 2010 Jul 3. [PubMed ]
Prolactinoma (OMIM: 600634 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00010 2-Methoxyestrone Urine Lee SH, Nam SY, Chung BC: Altered profile of endogenous steroids in the urine of patients with prolactinoma. Clin Biochem. 1998 Oct;31(7):529-35. [PubMed ]
Prolidase deficiency (OMIM: 170100 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00721 Glycylproline Blood; CSF; Urine Barshop BA: Metabolomic approaches to mitochondrial disease: correlation of urine organic acids. Mitochondrion. 2004 Sep;4(5-6):521-7. Epub 2004 Sep 30. [PubMed ] Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed ]
Propionic acidemia (OMIM: 606054 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00700 Hydroxypropionic acid Blood; CSF; Urine Metagene: PROPIONIC ACIDEMIA HMDB00237 Propionic acid Blood; CSF; Saliva; Urine Metagene: PROPIONIC ACIDEMIA HMDB00783 Propionylglycine Urine Metagene: PROPIONIC ACIDEMIA
Prostate cancer (OMIM: 176807 ) 36 metabolites
HMDB ID Name Biofluid Location(s) References HMDB11729 1-Kestose Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11718 4-Hydroxybenzaldehyde Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB02894 5-Methylcytosine Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB02658 6-Hydroxynicotinic acid Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB00495 Androstanediol Urine Puah CM, Williams G, Ghanadian R: Urinary unconjugated 5 alpha-androstane-3 alpha, 17 beta-diol in patients with prostatic tumours. Urol Res. 1982;10(2):81-4. [PubMed ] HMDB04246 Bradykinin Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03459 D-Alanyl-D-alanine Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01191 Deoxyuridine triphosphate Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03701 Dimethylbenzimidazole Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11739 Galactinol dihydrate Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01492 Gama-Tocopherol Blood; Breast Milk Key TJ, Appleby PN, Allen NE, Travis RC, Roddam AW, Jenab M, Egevad L, Tjonneland A, Johnsen NF, Overvad K, Linseisen J, Rohrmann S, Boeing H, Pischon T, Psaltopoulou T, Trichopoulou A, Trichopoulos D, Palli D, Vineis P, Tumino R, Berrino F, Kiemeney L, Bueno-de-Mesquita HB, Quiros JR, Gonzalez CA, Martinez C, Larranaga N, Chirlaque MD, Ardanaz E, Stattin P, Hallmans G, Khaw KT, Bingham S, Slimani N, Ferrari P, Rinaldi S, Riboli E: Plasma carotenoids, retinol, and tocopherols and the risk of prostate cancer in the European Prospective Investigation into Cancer and Nutrition study. Am J Clin Nutr. 2007 Sep;86(3):672-81. [PubMed ] HMDB00150 Gluconolactone Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11733 Glycyl-glycine Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB00764 Hydrocinnamic acid Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB02985 Inositol phosphate Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11742 Kojibiose Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB04041 L-Allothreonine Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03466 L-Gulonolactone Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03431 L-Histidinol Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01266 L-Sorbose Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11730 Melezitose Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11754 Methyldopa Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01104 N-Acetyl-b-glucosaminylamine Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11744 N-Acetyl-D-mannosamine Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB00766 N-Acetyl-L-alanine Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01138 N-Acetylglutamic acid Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB01015 N-Formyl-L-methionine Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11717 Nonate Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB00218 Orotidylic acid Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03072 Quinic acid Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB03966 Selenomethionine Blood; Urine Nyman DW, Suzanne Stratton M, Kopplin MJ, Dalkin BL, Nagle RB, Jay Gandolfi A: Selenium and selenomethionine levels in prostate cancer patients. Cancer Detect Prev. 2004;28(1):8-16. [PubMed ] HMDB03070 Shikimic acid Urine Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB05831 Sorbitol-6-phosphate Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11740 Turanose Blood Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB11720 UDP-N-acetylmuraminate Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ] HMDB00828 Ureidosuccinic acid Prostate Tissue Sreekumar A, Poisson LM, Rajendiran TM, Khan AP, Cao Q, Yu J, Laxman B, Mehra R, Lonigro RJ, Li Y, Nyati MK, Ahsan A, Kalyana-Sundaram S, Han B, Cao X, Byun J, Omenn GS, Ghosh D, Pennathur S, Alexander DC, Berger A, Shuster JR, Wei JT, Varambally S, Beecher C, Chinnaiyan AM: Metabolomic profiles delineate potential role for sarcosine in prostate cancer progression. Nature. 2009 Feb 12;457(7231):910-4. [PubMed ]
Proteinuria 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00248 Thyroxine Blood; Saliva; Urine Chandurkar V, Shik J, Randell E: Exacerbation of underlying hypothyroidism caused by proteinuria and induction of urinary thyroxine loss: case report and subsequent investigation. Endocr Pract. 2008 Jan-Feb;14(1):97-103. [PubMed ]
Psoriasis (OMIM: 177900 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00301 Urocanic acid Blood; N/A; Urine Gilmour JW, Vestey JP, Norval M: The effect of UV therapy on immune function in patients with psoriasis. Br J Dermatol. 1993 Jul;129(1):28-38. [PubMed ]
Purine nucleoside phosphorylase deficiency (OMIM: 164050 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00085 Deoxyguanosine Blood; Urine 10102915 [PubMed ] HMDB00071 Deoxyinosine Urine Chantin C, Bonin B, Boulieu R, Bory C: Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. Clin Chem. 1996 Feb;42(2):326-8. [PubMed ] HMDB00133 Guanosine Blood; Cellular Cytoplasm; Urine Wevers RA, Engelke UF, Moolenaar SH, Brautigam C, de Jong JG, Duran R, de Abreu RA, van Gennip AH: 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. Clin Chem. 1999 Apr;45(4):539-48. [PubMed ] HMDB00195 Inosine Blood; Cellular Cytoplasm; CSF; Pericardial Effusion; Urine Chantin C, Bonin B, Boulieu R, Bory C: Liquid-chromatographic study of purine metabolism abnormalities in purine nucleoside phosphorylase deficiency. Clin Chem. 1996 Feb;42(2):326-8. [PubMed ]
Pyruvate dehydrogenase deficiency (OMIM: 312170 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00008 2-Hydroxybutyric acid Blood; CSF; Urine OMIM 238331
Quetiapine poisoning 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB05021 Quetiapine Blood; CSF Flammia DD, Valouch T, Venuti S: Tissue distribution of quetiapine in 20 cases in Virginia. J Anal Toxicol. 2006 May;30(4):287-92. [PubMed ]
Rachialgia 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00538 Adenosine triphosphate Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01341 ADP Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01201 Guanosine diphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01273 Guanosine triphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ]
Refractory localization-related epilepsy 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00192 L-Cystine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00182 L-Lysine Blood; CSF; Saliva; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine Rainesalo S, Keranen T, Palmio J, Peltola J, Oja SS, Saransaari P: Plasma and cerebrospinal fluid amino acids in epileptic patients. Neurochem Res. 2004 Jan;29(1):319-24. [PubMed ]
Refsum's disease (OMIM: 266500 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00555 3-Methyladipic acid Urine Greter J, Lindstedt S, Steen G: 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease. Clin Chem. 1983 Mar;29(3):434-7. [PubMed ] HMDB03873 3a,7a,12a-Trihydroxy-5b-cholestanoic acid Blood Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, et al.: Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis. 1986;9(2):169-74. [PubMed ] HMDB01844 Methylsuccinic acid Urine Greter J, Lindstedt S, Steen G: 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease. Clin Chem. 1983 Mar;29(3):434-7. [PubMed ] HMDB00801 Phytanic acid Blood 12700346 [PubMed ] [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Poll-The BT, Saudubray JM, Ogier H, Schutgens RB, Wanders RJ, Schrakamp G, van den Bosch H, Trijbels JM, Poulos A, Moser HW, et al.: Infantile Refsum's disease: biochemical findings suggesting multiple peroxisomal dysfunction. J Inherit Metab Dis. 1986;9(2):169-74. [PubMed ]
Renal tubular acidosis, distal, RTA type 1 (OMIM: 179800 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00586 Potassium Blood; CSF; Urine Metagene: RENAL TUBULAR ACIDOSIS, DISTAL, RTA TYPE I
Rett syndrome (OMIM: 312750 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01396 5-Methyltetrahydrofolic acid Blood; CSF Ormazabal A, Artuch R, Vilaseca MA, Aracil A, Pineda M: Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid. Neuropediatrics. 2005 Dec;36(6):380-5. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine Metagene: RETT SYNDROME
Reye's syndrome 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB06552 Aflatoxin B1 Blood Tsuboi S, Nakagawa T, Tomita M, Seo T, Ono H, Kawamura K, Iwamura N: Detection of aflatoxin B1 in serum samples of male Japanese subjects by radioimmunoassay and high-performance liquid chromatography. Cancer Res. 1984 Mar;44(3):1231-4. [PubMed ]
Rhabdomyolysis 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00094 Citric acid Blood; CSF; Urine Bairaktari E, Seferiadis K, Liamis G, Psihogios N, Tsolas O, Elisaf M: Rhabdomyolysis-related renal tubular damage studied by proton nuclear magnetic resonance spectroscopy of urine. Clin Chem. 2002 Jul;48(7):1106-9. [PubMed ] HMDB00064 Creatine Blood; CSF; Urine Bairaktari E, Seferiadis K, Liamis G, Psihogios N, Tsolas O, Elisaf M: Rhabdomyolysis-related renal tubular damage studied by proton nuclear magnetic resonance spectroscopy of urine. Clin Chem. 2002 Jul;48(7):1106-9. [PubMed ] HMDB00087 Dimethylamine Blood; CSF; Saliva; Urine Bairaktari E, Seferiadis K, Liamis G, Psihogios N, Tsolas O, Elisaf M: Rhabdomyolysis-related renal tubular damage studied by proton nuclear magnetic resonance spectroscopy of urine. Clin Chem. 2002 Jul;48(7):1106-9. [PubMed ] HMDB00925 Trimethylamine N-oxide Blood; Saliva; Urine Bairaktari E, Seferiadis K, Liamis G, Psihogios N, Tsolas O, Elisaf M: Rhabdomyolysis-related renal tubular damage studied by proton nuclear magnetic resonance spectroscopy of urine. Clin Chem. 2002 Jul;48(7):1106-9. [PubMed ]
Rheumatoid arthritis (OMIM: 180300 ) 11 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00374 17-Hydroxyprogesterone Blood; Saliva; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB11134 5-HETE Blood; CSF Chavis C, Fraissinet L, Chanez P, Thomas E, Bousquet J: A method for the measurement of plasma hydroxyeicosatetraenoic acid levels. Anal Biochem. 1999 Jun 15;271(1):105-8. [PubMed ] HMDB02886 6-Keto-prostaglandin F1a Blood; CSF; Urine Laitinen O, Seppala E, Nissila M, Vapaatalo H: Plasma levels and urinary excretion of prostaglandins in patients with rheumatoid arthritis. Clin Rheumatol. 1983 Dec;2(4):401-6. [PubMed ] HMDB00053 Androstenedione Blood; CSF; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB00063 Cortisol Blood; CSF; Saliva; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB02802 Cortisone Blood; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB00077 Dehydroepiandrosterone Blood; CSF; Saliva; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB01032 DHEA sulfate Blood; Urine Straub RH, Weidler C, Demmel B, Herrmann M, Kees F, Schmidt M, Scholmerich J, Schedel J: Renal clearance and daily excretion of cortisol and adrenal androgens in patients with rheumatoid arthritis and systemic lupus erythematosus. Ann Rheum Dis. 2004 Aug;63(8):961-8. [PubMed ] HMDB00121 Folic acid Blood; Cellular Cytoplasm; CSF; Urine Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed ] HMDB00851 Pyridinoline Blood; Urine Jensen T, Klarlund M, Hansen M, Jensen KE, Skjodt H, Hyldstrup L: Connective tissue metabolism in patients with unclassified polyarthritis and early rheumatoid arthritis. Relationship to disease activity, bone mineral density, and radiographic outcome. J Rheumatol. 2004 Sep;31(9):1698-708. [PubMed ] HMDB01491 Pyridoxal 5'-phosphate Blood; CSF Chiang EP, Smith DE, Selhub J, Dallal G, Wang YC, Roubenoff R: Inflammation causes tissue-specific depletion of vitamin B6. Arthritis Res Ther. 2005;7(6):R1254-62. Epub 2005 Sep 13. [PubMed ]
Rhinitis (OMIM: 607154 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB11134 5-HETE Blood; CSF Chavis C, Fraissinet L, Chanez P, Thomas E, Bousquet J: A method for the measurement of plasma hydroxyeicosatetraenoic acid levels. Anal Biochem. 1999 Jun 15;271(1):105-8. [PubMed ]
Ribose-5-phosphate isomerase deficiency (OMIM: 608611 ) 12 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00568 D-Arabitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00283 D-Ribose Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB04136 D-Threitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB02917 D-Xylitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB01644 D-Xylulose Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB02994 Erythritol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00646 L-Arabinose Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB01851 L-Arabitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00751 L-Threo-2-pentulose Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00765 Mannitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00211 Myoinositol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ] HMDB00508 Ribitol Blood; CSF; Urine Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS: Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy. Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25. [PubMed ]
rsenic trioxide treatment for acute promyelocytic leukemia (APL) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB11620 Arsenite Blood; CSF Au WY, Tam S, Fong BM, Kwong YL: Determinants of cerebrospinal fluid arsenic concentration in patients with acute promyelocytic leukemia on oral arsenic trioxide therapy. Blood. 2008 Nov 1;112(9):3587-90. Epub 2008 Aug 14. [PubMed ]
Salla disease (OMIM: 604369 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00830 Neuraminic acid Blood; CSF; Urine Metagene: SALLA DISEASE
Sarcoma 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB03192 5-Aminoimidazole-4-carboxamide Blood; Urine Breithaupt H, Dammann A, Aigner K: Pharmacokinetics of dacarbazine (DTIC) and its metabolite 5-aminoimidazole-4-carboxamide (AIC) following different dose schedules. Cancer Chemother Pharmacol. 1982;9(2):103-9. [PubMed ]
Sarcosinemia (OMIM: 268900 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00271 Sarcosine Blood; Saliva; Urine 6207480 http://www.metagene.de/program/d.prg?mp=SARCOSINEMIA
Schistosomiasis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB05770 Tuftsin Blood Brandt CT, Maciel DT, Caneca OA, Castro CM, Araujo LB: Autotransplant of spleen tissue in children with schistosomiasis: evaluation of splenic function after splenosis. Mem Inst Oswaldo Cruz. 2001;96 Suppl:117-22. [PubMed ]
Schizophrenia (OMIM: 181500 ) 27 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00763 5-Hydroxyindoleacetic acid Blood; CSF; Urine 2480613 [PubMed ] HMDB01855 5-Hydroxytryptophol Blood; CSF Harnryd C, Bjerkenstedt L, Grimm VE, Sedvall G: Reduction of MOPEG levels in cerebrospinal fluid of psychotic women after electroconvulsive treatment. Psychopharmacology (Berl). 1979 Aug 8;64(2):131-4. [PubMed ] HMDB02004 5-Methoxydimethyltryptamine Blood; Urine Uebelhack R, Franke L, Seidel K: [Methylated and unmethylated indolamine in the cisternal fluid in acute endogenous psychoses] Biomed Biochim Acta. 1983;42(10):1343-6. [PubMed ] HMDB00904 Citrulline Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00063 Cortisol Blood; CSF; Saliva; Urine Walker EF, Bonsall R, Walder DJ: Plasma hormones and catecholamine metabolites in monozygotic twins discordant for psychosis. Neuropsychiatry Neuropsychol Behav Neurol. 2002 Mar;15(1):10-7. [PubMed ] HMDB03339 D-Glutamic acid Blood Heresco-Levy U, Bar G, Levin R, Ermilov M, Ebstein RP, Javitt DC: High glycine levels are associated with prepulse inhibition deficits in chronic schizophrenia patients. Schizophr Res. 2007 Mar;91(1-3):14-21. Epub 2007 Feb 2. [PubMed ] HMDB03406 D-Serine Blood; CSF Hashimoto K, Fukushima T, Shimizu E, Komatsu N, Watanabe H, Shinoda N, Nakazato M, Kumakiri C, Okada S, Hasegawa H, Imai K, Iyo M: Decreased serum levels of D-serine in patients with schizophrenia: evidence in support of the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia. Arch Gen Psychiatry. 2003 Jun;60(6):572-6. [PubMed ] HMDB11738 Gamma-Glutamylglutamine Blood; CSF Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00123 Glycine Bile; Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00118 Homovanillic acid Blood; CSF; Urine 115032 [PubMed ] [PubMed ] HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00168 L-Asparagine Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00191 L-Aspartic acid Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00148 L-Glutamic acid Blood; Cellular Cytoplasm; CSF; Saliva; Urine 2480613 [PubMed ] HMDB00641 L-Glutamine Blood; CSF; Saliva; Urine Alfredsson G, Wiesel FA: Monoamine metabolites and amino acids in serum from schizophrenic patients before and during sulpiride treatment. Psychopharmacology (Berl). 1989;99(3):322-7. [PubMed ] HMDB00172 L-Isoleucine Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00696 L-Methionine Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00187 L-Serine Blood; CSF; Urine 12796220 [PubMed ] HMDB00167 L-Threonine Blood; CSF; Saliva; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00929 L-Tryptophan Blood; CSF; Saliva; Urine 2480613 [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine 2480613 [PubMed ] HMDB00812 N-Acetyl-L-aspartic acid Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB01067 N-Acetylaspartylglutamic acid Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB00020 p-Hydroxyphenylacetic acid Blood; CSF; Saliva; Urine Kobayashi K, Koide Y, Yoshino K, Shohmori T: [P-hydroxyphenylacetic acid concentrations in cerebrospinal fluid] No To Shinkei. 1982 Aug;34(8):769-74. [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Do KQ, Lauer CJ, Schreiber W, Zollinger M, Gutteck-Amsler U, Cuenod M, Holsboer F: gamma-Glutamylglutamine and taurine concentrations are decreased in the cerebrospinal fluid of drug-naive patients with schizophrenic disorders. J Neurochem. 1995 Dec;65(6):2652-62. [PubMed ] HMDB01490 Vanylglycol Blood; CSF; Urine 115032 [PubMed ]
Segawa Syndrome (OMIM: 128230 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00468 Biopterin Blood; Cellular Cytoplasm; CSF; Urine Furuya H, Murai H, Takasugi K, Ohyagi Y, Urano F, Kishi T, Ichinose H, Kira J: A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Clin Neurol Neurosurg. 2006 Dec;108(8):784-6. Epub 2005 Nov 14. [PubMed ]
Sepiapterin reductase deficiency (OMIM: 182125 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00238 Sepiapterin CSF Zorzi G, Redweik U, Trippe H, Penzien JM, Thony B, Blau N: Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab. 2002 Feb;75(2):174-7. [PubMed ]
Sepsis 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00582 3,5-Diiodothyronine Blood; Urine Pinna G, Meinhold H, Hiedra L, Thoma R, Hoell T, Graf KJ, Stoltenburg-Didinger G, Eravci M, Prengel H, Brodel O, Finke R, Baumgartner A: Elevated 3,5-diiodothyronine concentrations in the sera of patients with nonthyroidal illnesses and brain tumors. J Clin Endocrinol Metab. 1997 May;82(5):1535-42. [PubMed ] HMDB05006 Atorvastatin Blood Kruger PS, Freir NM, Venkatesh B, Robertson TA, Roberts MS, Jones M: A preliminary study of atorvastatin plasma concentrations in critically ill patients with sepsis. Intensive Care Med. 2008 Nov 26. [PubMed ]
Septic shock 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00050 Adenosine Blood; Cellular Cytoplasm; CSF; Urine Kaufmann I, Hoelzl A, Schliephake F, Hummel T, Chouker A, Lysenko L, Peter K, Thiel M: Effects of adenosine on functions of polymorphonuclear leukocytes from patients with septic shock. Shock. 2007 Jan;27(1):25-31. [PubMed ] HMDB00027 Tetrahydrobiopterin Blood; CSF Galley HF, Le Cras AE, Yassen K, Grant IS, Webster NR: Circulating tetrahydrobiopterin concentrations in patients with septic shock. Br J Anaesth. 2001 Apr;86(4):578-80. [PubMed ]
Short bowel syndrome 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00051 Ammonia Blood; Cellular Cytoplasm; CSF; Urine Pita AM, Wakabayashi Y, Fernandez-Bustos MA, Virgili N, Riudor E, Soler J, Farriol M: Plasma urea-cycle-related amino acids, ammonium levels, and urinary orotic acid excretion in short-bowel patients managed with an oral diet. Clin Nutr. 2003 Feb;22(1):93-8. [PubMed ] HMDB00852 Beta-Sitosterol Blood; Urine Ellegard L, Sunesson A, Bosaeus I: High serum phytosterol levels in short bowel patients on parenteral nutrition support. Clin Nutr. 2005 Jun;24(3):415-20. [PubMed ] HMDB03374 D-Ornithine Blood Pita AM, Fernandez-Bustos A, Rodes M, Arranz JA, Fisac C, Virgili N, Soler J, Wakabayashi Y: Orotic aciduria and plasma urea cycle-related amino acid alterations in short bowel syndrome, evoked by an arginine-free diet. JPEN J Parenter Enteral Nutr. 2004 Sep-Oct;28(5):315-23. [PubMed ]
Short Chain Acyl-Coa Dehydrogenase Deficiency 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00701 Hexanoylglycine Urine Metagene: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) HMDB01844 Methylsuccinic acid Urine Metagene: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD) HMDB00808 N-Butyrylglycine Urine Metagene: SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD)
Sickle cell anemia (OMIM: 603903 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00742 Homocysteine Blood; CSF; Urine van der Dijs FP, Schnog JJ, Brouwer DA, Velvis HJ, van den Berg GA, Bakker AJ, Duits AJ, Muskiet FD, Muskiet FA: Elevated homocysteine levels indicate suboptimal folate status in pediatric sickle cell patients. Am J Hematol. 1998 Nov;59(3):192-8. [PubMed ] HMDB01545 Pyridoxal Blood Nelson MC, Zemel BS, Kawchak DA, Barden EM, Frongillo EA Jr, Coburn SP, Ohene-Frempong K, Stallings VA: Vitamin B6 status of children with sickle cell disease. J Pediatr Hematol Oncol. 2002 Aug-Sep;24(6):463-9. [PubMed ]
Sitosterolemia (OMIM: 210250 ) 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02374 Avenasterol Blood Lutjohann D, Bjorkhem I, Beil UF, von Bergmann K: Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res. 1995 Aug;36(8):1763-73. [PubMed ] HMDB00534 Campestanol Blood Lutjohann D, Bjorkhem I, Beil UF, von Bergmann K: Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res. 1995 Aug;36(8):1763-73. [PubMed ] HMDB02869 Campesterol Blood; Urine Lutjohann D, Bjorkhem I, Beil UF, von Bergmann K: Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res. 1995 Aug;36(8):1763-73. [PubMed ] HMDB00494 Stigmastanol Blood Lutjohann D, Bjorkhem I, Beil UF, von Bergmann K: Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res. 1995 Aug;36(8):1763-73. [PubMed ] HMDB00937 Stigmasterol Blood; Urine Lutjohann D, Bjorkhem I, Beil UF, von Bergmann K: Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment. J Lipid Res. 1995 Aug;36(8):1763-73. [PubMed ]
Sjögren-Larsson syndrome (OMIM: 270200 ) 4 metabolites
HMDB ID Name Biofluid Location(s) References HMDB06059 20-Carboxyleukotriene B4 CSF; Urine Willemsen MA, Rotteveel JJ, de Jong JG, Wanders RJ, IJlst L, Hoffmann GF, Mayatepek E: Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci. 2001 Jan 15;183(1):61-7. [PubMed ] HMDB01509 20-Hydroxy-leukotriene B4 CSF; Urine Willemsen MA, Rotteveel JJ, de Jong JG, Wanders RJ, IJlst L, Hoffmann GF, Mayatepek E: Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci. 2001 Jan 15;183(1):61-7. [PubMed ] HMDB01085 Leukotriene B4 Blood; CSF; Urine Willemsen MA, Rotteveel JJ, de Jong JG, Wanders RJ, IJlst L, Hoffmann GF, Mayatepek E: Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci. 2001 Jan 15;183(1):61-7. [PubMed ] HMDB02200 Leukotriene E4 Blood; Urine Willemsen MA, Rotteveel JJ, de Jong JG, Wanders RJ, IJlst L, Hoffmann GF, Mayatepek E: Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci. 2001 Jan 15;183(1):61-7. [PubMed ]
Small bowel bacterial overgrowth syndrome 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00098 D-Xylose Blood; Urine Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ]
Small intestinal malabsorption 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00098 D-Xylose Blood; Urine Ehrenpreis ED, Salvino M, Craig RM: Improving the serum D-xylose test for the identification of patients with small intestinal malabsorption. J Clin Gastroenterol. 2001 Jul;33(1):36-40. [PubMed ]
Smith-Lemli-Opitz syndrome (OMIM: 270400 ) 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01438 25-Hydroxyvitamin D2 Blood; Urine Rossi M, Federico G, Corso G, Parenti G, Battagliese A, Frascogna AR, Della Casa R, Dello Russo A, Strisciuglio P, Saggese G, Andria G: Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2005;28(1):69-80. [PubMed ] HMDB00522 3-Methylglutaconic acid Blood; Urine Kelley RI, Kratz L: 3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome. Pediatr Res. 1995 May;37(5):671-4. [PubMed ] Kelley RI: Quantification of 3-methylglutaconic acid in urine, plasma, and amniotic fluid by isotope-dilution gas chromatography/mass spectrometry. Clin Chim Acta. 1993 Nov 15;220(2):157-64. [PubMed ] HMDB00032 7-Dehydrocholesterol Blood; CSF; Urine 9266395 [PubMed ] HMDB02027 8-Dehydrocholesterol Blood; CSF 9266395 [PubMed ] HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80. [PubMed ] HMDB00227 Mevalonic acid Blood; Urine Honda M, Tint GS, Honda A, Salen G, Shefer S, Batta AK, Matsuzaki Y, Tanaka N: Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2000 Jul;23(5):464-74. [PubMed ]
Smoking 16 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00873 4-Methylcatechol Urine Carmella SG, La Voie EJ, Hecht SS: Quantitative analysis of catechol and 4-methylcatechol in human urine. Food Chem Toxicol. 1982 Oct;20(5):587-90. [PubMed ] HMDB00469 5-Hydroxymethyluracil Blood; Urine Chen HJ, Wu CF, Huang JL: Measurement of urinary excretion of 5-hydroxymethyluracil in human by GC/NICI/MS: correlation with cigarette smoking, urinary TBARS and etheno DNA adduct. Toxicol Lett. 2005 Mar 15;155(3):403-10. [PubMed ] HMDB03333 8-Hydroxy-deoxyguanosine Blood; Urine Li N, Jia X, Chen CY, Blumberg JB, Song Y, Zhang W, Zhang X, Ma G, Chen J: Almond consumption reduces oxidative DNA damage and lipid peroxidation in male smokers. J Nutr. 2007 Dec;137(12):2717-22. [PubMed ] HMDB01893 Alpha-Tocopherol Blood; Breast Milk; CSF; Urine Li N, Jia X, Chen CY, Blumberg JB, Song Y, Zhang W, Zhang X, Ma G, Chen J: Almond consumption reduces oxidative DNA damage and lipid peroxidation in male smokers. J Nutr. 2007 Dec;137(12):2717-22. [PubMed ] HMDB04350 Anabasine Blood; Urine Moyer TP, Charlson JR, Enger RJ, Dale LC, Ebbert JO, Schroeder DR, Hurt RD: Simultaneous analysis of nicotine, nicotine metabolites, and tobacco alkaloids in serum or urine by tandem mass spectrometry, with clinically relevant metabolic profiles. Clin Chem. 2002 Sep;48(9):1460-71. [PubMed ] HMDB01361 Carbon monoxide Blood Geigy Scientific Tables, 8th Rev edition, pp. 165-177. Edited by C. Lentner, West Cadwell, N.J.: Medical education Div., Ciba-Geigy Corp., Basel, Switzerland c1981-1992. HMDB01046 Cotinine Blood; CSF; Saliva; Urine 12194923 [PubMed ] HMDB06045 Dityrosine Urine Orhan H, Coolen S, Meerman JH: Quantification of urinary o,o'-dityrosine, a biomarker for oxidative damage to proteins, by high performance liquid chromatography with triple quadrupole tandem mass spectrometry. A comparison with ion-trap tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Nov 15;827(1):104-8. [PubMed ] HMDB01390 Hydroxycotinine Blood; Saliva; Urine 8294547 [PubMed ] HMDB01934 L(-)-Nicotine pestanal Blood; Saliva; Urine 8294547 [PubMed ] HMDB06112 Malondialdehyde Blood; CSF; Urine Li N, Jia X, Chen CY, Blumberg JB, Song Y, Zhang W, Zhang X, Ma G, Chen J: Almond consumption reduces oxidative DNA damage and lipid peroxidation in male smokers. J Nutr. 2007 Dec;137(12):2717-22. [PubMed ] HMDB01888 N,N-Dimethylformamide Urine Schettgen T, Musiol A, Kraus T: Simultaneous determination of mercapturic acids derived from ethylene oxide (HEMA), propylene oxide (2-HPMA), acrolein (3-HPMA), acrylamide (AAMA) and N,N-dimethylformamide (AMCC) in human urine using liquid chromatography/tandem mass spectrometry. Rapid Commun Mass Spectrom. 2008 Sep;22(17):2629-38. [PubMed ] HMDB01297 Norcotinine Blood Zuccaro P, Altieri I, Rosa M, Passa AR, Pichini S, Ricciarello G, Pacifici R: Determination of nicotine and four metabolites in the serum of smokers by high-performance liquid chromatography with ultraviolet detection. J Chromatogr. 1993 Nov 24;621(2):257-61. [PubMed ] HMDB01126 Nornicotine Urine Moyer TP, Charlson JR, Enger RJ, Dale LC, Ebbert JO, Schroeder DR, Hurt RD: Simultaneous analysis of nicotine, nicotine metabolites, and tobacco alkaloids in serum or urine by tandem mass spectrometry, with clinically relevant metabolic profiles. Clin Chem. 2002 Sep;48(9):1460-71. [PubMed ] HMDB00787 Sapropterin Blood; CSF Ueda S, Matsuoka H, Miyazaki H, Usui M, Okuda S, Imaizumi T: Tetrahydrobiopterin restores endothelial function in long-term smokers. J Am Coll Cardiol. 2000 Jan;35(1):71-5. [PubMed ] HMDB02349 trans-trans-Muconic acid Urine Ruppert T, Scherer G, Tricker AR, Adlkofer F: trans,trans-muconic acid as a biomarker of non-occupational environmental exposure to benzene. Int Arch Occup Environ Health. 1997;69(4):247-51. [PubMed ]
Sodium nitrate consumption 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00229 Nicotinamide ribotide Urine Jansen EH, van den Berg RH, Boink AB, Hegger C, Meulenbelt J: A new physiological biomarker for nitrate exposure in humans. Toxicol Lett. 1995 May;77(1-3):265-9. [PubMed ]
Spina Bifida (OMIM: 182940 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00097 Choline Blood; Breast Milk; CSF; Saliva; Urine Pal K, Sharma U, Gupta DK, Pratap A, Jagannathan NR: Metabolite profile of cerebrospinal fluid in patients with spina bifida: a proton magnetic resonance spectroscopy study. Spine. 2005 Feb 1;30(3):E68-72. [PubMed ] HMDB00020 p-Hydroxyphenylacetic acid Blood; CSF; Saliva; Urine McKibbin B, O'Gorman L, Duckworth T: Catecholamine metabolite excretion in spina bifida. J Clin Pathol. 1969 Nov;22(6):687-9. [PubMed ]
Spinal disc herniation (OMIM: 603932 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01539 Dimethyl-L-arginine Blood; CSF; Urine Watanabe T, Kato S, Sato K, Nagata K: Nitric oxide regulation system in degenerative lumbar disease. Kurume Med J. 2005;52(1-2):39-47. [PubMed ]
Spinal stenosis 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01539 Dimethyl-L-arginine Blood; CSF; Urine Watanabe T, Kato S, Sato K, Nagata K: Nitric oxide regulation system in degenerative lumbar disease. Kurume Med J. 2005;52(1-2):39-47. [PubMed ]
Stomach cancer (OMIM: 137215 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine Ishiwata S, Itoh K, Yamaguchi T, Ishida N, Mizugaki M: Comparison of serum and urinary levels of modified nucleoside, 1-methyladenosine, in cancer patients using a monoclonal antibody-based inhibition ELISA. Tohoku J Exp Med. 1995 May;176(1):61-8. [PubMed ] HMDB00067 Cholesterol Bile; Blood; CSF; Saliva; Urine Higashijima H, Ichimiya H, Nakano T, Yamashita H, Kuroki S, Satoh H, Chijiiwa K, Tanaka M: Deconjugation of bilirubin accelerates coprecipitation of cholesterol, fatty acids, and mucin in human bile--in vitro study. J Gastroenterol. 1996 Dec;31(6):828-35. [PubMed ]
Stress 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Krahwinkel T, Nastali S, Azrak B, Willershausen B: The effect of examination stress conditions on the cortisol content of saliva - a study of students from clinical semesters. Eur J Med Res. 2004 May 28;9(5):256-60. [PubMed ]
Stroke (OMIM: 540000 ) 8 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01476 3-Hydroxyanthranilic acid Blood; Urine Darlington LG, Mackay GM, Forrest CM, Stoy N, George C, Stone TW: Altered kynurenine metabolism correlates with infarct volume in stroke. Eur J Neurosci. 2007 Oct;26(8):2211-21. Epub 2007 Sep 24. [PubMed ] HMDB00538 Adenosine triphosphate Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01341 ADP Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB02183 Docosahexaenoic acid Blood; CSF; Urine Pilitsis JG, Coplin WM, O'Regan MH, Wellwood JM, Diaz FG, Fairfax MR, Michael DB, Phillis JW: Measurement of free fatty acids in cerebrospinal fluid from patients with hemorrhagic and ischemic stroke. Brain Res. 2003 Sep 26;985(2):198-201. [PubMed ] HMDB01201 Guanosine diphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01273 Guanosine triphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB00742 Homocysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ] HMDB00574 L-Cysteine Blood; CSF; Urine Obeid R, Kasoha M, Knapp JP, Kostopoulos P, Becker G, Fassbender K, Herrmann W: Folate and methylation status in relation to phosphorylated tau protein(181P) and beta-amyloid(1-42) in cerebrospinal fluid. Clin Chem. 2007 Jun;53(6):1129-36. Epub 2007 Mar 23. [PubMed ]
Subarachnoid hemorrhage (OMIM: 105800 ) 11 metabolites
HMDB ID Name Biofluid Location(s) References HMDB01419 24-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB02103 27-Hydroxycholesterol Blood; CSF Leoni V, Masterman T, Mousavi FS, Wretlind B, Wahlund LO, Diczfalusy U, Hillert J, Bjorkhem I: Diagnostic use of cerebral and extracerebral oxysterols. Clin Chem Lab Med. 2004 Feb;42(2):186-91. [PubMed ] HMDB00538 Adenosine triphosphate Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01341 ADP Blood; Cellular Cytoplasm; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB04146 BOX A Clark JF, Loftspring M, Wurster WL, Pyne-Geithman GJ: Chemical and biochemical oxidations in spinal fluid after subarachnoid hemorrhage. Front Biosci. 2008 Jan 1;13:1806-12. [PubMed ] HMDB04145 BOX B Clark JF, Loftspring M, Wurster WL, Pyne-Geithman GJ: Chemical and biochemical oxidations in spinal fluid after subarachnoid hemorrhage. Front Biosci. 2008 Jan 1;13:1806-12. [PubMed ] HMDB00068 Epinephrine Blood; CSF; Urine Lambert G, Naredi S, Eden E, Rydenhag B, Friberg P: Monoamine metabolism and sympathetic nervous activation following subarachnoid haemorrhage: influence of gender and hydrocephalus. Brain Res Bull. 2002 May;58(1):77-82. [PubMed ] HMDB01201 Guanosine diphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB01273 Guanosine triphosphate Blood; CSF Czarnecka J, Cieslak M, Michal K: Application of solid phase extraction and high-performance liquid chromatography to qualitative and quantitative analysis of nucleotides and nucleosides in human cerebrospinal fluid. J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 5;822(1-2):85-90. [PubMed ] HMDB00216 Norepinephrine Blood; CSF; Urine Lambert G, Naredi S, Eden E, Rydenhag B, Friberg P: Monoamine metabolism and sympathetic nervous activation following subarachnoid haemorrhage: influence of gender and hydrocephalus. Brain Res Bull. 2002 May;58(1):77-82. [PubMed ] HMDB01403 Prostaglandin D2 Blood; CSF Gaetani P, Rodriguez y Baena R, Vigano T, Crivellari MT: [Prostaglandin D2 in subarachnoid hemorrhage. Biological and diagnostic implications] Riv Patol Nerv Ment. 1983 Jul-Aug;104(4):171-7. [PubMed ]
Succinic semialdehyde dehydrogenase deficiency (OMIM: 271980 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00337 (S)-3,4-Dihydroxybutyric acid Blood; CSF; Urine Metagene: 4-HYDROXYBUTYRIC ACIDURIA HMDB00710 4-Hydroxybutyric acid Blood; CSF; Urine Ergezinger K, Jeschke R, Frauendienst-Egger G, Korall H, Gibson KM, Schuster VH: Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency. Ann Neurol. 2003 Nov;54(5):686-9. [PubMed ]
Sulfite oxidase deficiency (OMIM: 272300 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00731 Cysteine-S-sulfate Blood; Urine 10682307 [PubMed ] HMDB00251 Taurine Bile; Blood; CSF; Urine Metagene: MOLYBDENIUM CO-FACTOR DEFICIENCY HMDB00289 Uric acid Amniotic Fluid; Bile; Blood; CSF; Saliva; Urine Metagene: MOLYBDENIUM CO-FACTOR DEFICIENCY
tert-Amyl-methyl ether exposed 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01987 2-Hydroxy-2-methylbutyric acid Urine Amberg A, Rosner E, Dekant W: Biotransformation and kinetics of excretion of tert-amyl-methyl ether in humans and rats after inhalation exposure. Toxicol Sci. 2000 Jun;55(2):274-83. [PubMed ]
Testicular adrenal rest tumors 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB04030 21-Deoxycortisol Blood Claahsen-van der Grinten HL, Otten BJ, Sweep FC, Span PN, Ross HA, Meuleman EJ, Hermus AR: Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue. J Clin Endocrinol Metab. 2007 Sep;92(9):3674-80. Epub 2007 Jun 26. [PubMed ]
Tetrahydrofuran exposure 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00246 Tetrahydrofuran Blood Ong CN, Chia SE, Phoon WH, Tan KT: Biological monitoring of occupational exposure to tetrahydrofuran. Br J Ind Med. 1991 Sep;48(9):616-21. [PubMed ]
Thymidine treatment 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00469 5-Hydroxymethyluracil Blood; Urine Leyva A, Schornagel JH, Kraal I, Wadman SK, Pinedo HM: Clinical and biochemical studies of high-dose thymidine treatment in patients with solid tumors. J Cancer Res Clin Oncol. 1984;107(3):211-6. [PubMed ] HMDB00262 Thymine Blood; CSF; Urine Leyva A, Schornagel JH, Kraal I, Wadman SK, Pinedo HM: Clinical and biochemical studies of high-dose thymidine treatment in patients with solid tumors. J Cancer Res Clin Oncol. 1984;107(3):211-6. [PubMed ]
Thyroid cancer 17 metabolites
HMDB ID Name Biofluid Location(s) References HMDB02721 1-Methylinosine Blood; Urine Liebich HM, Di Stefano C, Wixforth A, Schmid HR: Quantitation of urinary nucleosides by high-performance liquid chromatography. J Chromatogr A. 1997 Feb 28;763(1-2):193-7. [PubMed ] HMDB00352 16a-Hydroxydehydroisoandrosterone Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB00449 5a-Tetrahydrocorticosterone Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB01388 Alpha-Linolenic acid Blood; Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB01893 Alpha-Tocopherol Blood; Breast Milk; CSF; Urine Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ] HMDB00053 Androstenedione Blood; CSF; Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB05821 Beta-Cortol Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB02322 Cadaverine Blood; Urine Loser C, Folsch UR, Paprotny C, Creutzfeldt W: Polyamine concentrations in pancreatic tissue, serum, and urine of patients with pancreatic cancer. Pancreas. 1990 Mar;5(2):119-27. [PubMed ] HMDB02183 Docosahexaenoic acid Blood; CSF; Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB01976 Docosapentaenoic acid (22n-6) Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB00174 L-Fucose Blood; Breast Milk; Urine Sakai T, Yamamoto K, Yokota H, Hakozaki-Usui K, Hino F, Kato I: Rapid, simple enzymatic assay of free L-fucose in serum and urine, and its use as a marker for cancer, cirrhosis, and gastric ulcers. Clin Chem. 1990 Mar;36(3):474-6. [PubMed ] HMDB00673 Linoleic acid Blood; CSF; Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB01276 N1-Acetylspermidine Blood; Urine Loser C, Folsch UR, Paprotny C, Creutzfeldt W: Polyamine concentrations in pancreatic tissue, serum, and urine of patients with pancreatic cancer. Pancreas. 1990 Mar;5(2):119-27. [PubMed ] HMDB02189 N8-Acetylspermidine Blood; Urine Loser C, Folsch UR, Paprotny C, Creutzfeldt W: Polyamine concentrations in pancreatic tissue, serum, and urine of patients with pancreatic cancer. Pancreas. 1990 Mar;5(2):119-27. [PubMed ] HMDB00879 Tetrahydrodeoxycorticosterone Blood; Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB05972 Tetrahydrodeoxycortisol Urine Kim KM, Jung BH, Lho DS, Chung WY, Paeng KJ, Chung BC: Alteration of urinary profiles of endogenous steroids and polyunsaturated fatty acids in thyroid cancer. Cancer Lett. 2003 Dec 30;202(2):173-9. [PubMed ] HMDB00305 Vitamin A Blood Jeong NH, Song ES, Lee JM, Lee KB, Kim MK, Yun YM, Lee JK, Son SK, Lee JP, Kim JH, Hur SY, Kwon YI: Preoperative levels of plasma micronutrients are related to endometrial cancer risk. Acta Obstet Gynecol Scand. 2009;88(4):434-9. [PubMed ]
Tic disorder 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00063 Cortisol Blood; CSF; Saliva; Urine Hoekstra PJ, Anderson GM, Troost PW, Kallenberg CG, Minderaa RB: Plasma kynurenine and related measures in tic disorder patients. Eur Child Adolesc Psychiatry. 2007 Jun;16 Suppl 1:71-7. [PubMed ]
Transaldolase deficiency (OMIM: 606003 ) 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00618 D-Ribulose 5-phosphate Blood; Cellular Cytoplasm Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS: Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem. 2003 Aug;49(8):1375-80. [PubMed ] HMDB01068 D-Sedoheptulose 7-phosphate Blood; Cellular Cytoplasm Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS: Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem. 2003 Aug;49(8):1375-80. [PubMed ] HMDB01473 Dihydroxyacetone phosphate Blood; Cellular Cytoplasm Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS: Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency. Clin Chem. 2003 Aug;49(8):1375-80. [PubMed ]
Transcobalamin II deficiency (OMIM: 275350 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00202 Methylmalonic acid Blood; CSF; Urine Metagene: TRANSCOBALAMIN II DEFICIENCY
Transurethral resection of the prostate 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00115 Glycolic acid Blood; CSF; Urine Perier C, Mahul P, Molliex S, Auboyer C, Frey J: Progressive changes in glycine and glycine derivatives in plasma and cerebrospinal fluid after transurethral prostatic resection. Clin Chem. 1990 Dec;36(12):2152-3. [PubMed ] HMDB00119 Glyoxylic acid Blood; CSF; Urine Perier C, Mahul P, Molliex S, Auboyer C, Frey J: Progressive changes in glycine and glycine derivatives in plasma and cerebrospinal fluid after transurethral prostatic resection. Clin Chem. 1990 Dec;36(12):2152-3. [PubMed ]
Trauma 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB02786 Nitrite Blood; CSF; Saliva Jacob TD, Ochoa JB, Udekwu AO, Wilkinson J, Murray T, Billiar TR, Simmons RL, Marion DW, Peitzman AB: Nitric oxide production is inhibited in trauma patients. J Trauma. 1993 Oct;35(4):590-6; discussion 596-7. [PubMed ]
Traumatic brain injury 6 metabolites
HMDB ID Name Biofluid Location(s) References HMDB04659 8-Isoprostane Blood; CSF; Urine Bayir H, Kagan VE, Tyurina YY, Tyurin V, Ruppel RA, Adelson PD, Graham SH, Janesko K, Clark RS, Kochanek PM: Assessment of antioxidant reserves and oxidative stress in cerebrospinal fluid after severe traumatic brain injury in infants and children. Pediatr Res. 2002 May;51(5):571-8. [PubMed ] HMDB00044 Ascorbic acid Amniotic Fluid; Blood; Cellular Cytoplasm; CSF; Urine Bayir H, Kagan VE, Tyurina YY, Tyurin V, Ruppel RA, Adelson PD, Graham SH, Janesko K, Clark RS, Kochanek PM: Assessment of antioxidant reserves and oxidative stress in cerebrospinal fluid after severe traumatic brain injury in infants and children. Pediatr Res. 2002 May;51(5):571-8. [PubMed ] HMDB00125 Glutathione Blood; Cellular Cytoplasm; CSF; Urine Bayir H, Kagan VE, Tyurina YY, Tyurin V, Ruppel RA, Adelson PD, Graham SH, Janesko K, Clark RS, Kochanek PM: Assessment of antioxidant reserves and oxidative stress in cerebrospinal fluid after severe traumatic brain injury in infants and children. Pediatr Res. 2002 May;51(5):571-8. [PubMed ] HMDB00224 O-Phosphoethanolamine Blood; CSF; Urine Seki Y, Kimura M, Mizutani N, Fujita M, Aimi Y, Suzuki Y: Cerebrospinal fluid taurine after traumatic brain injury. Neurochem Res. 2005 Jan;30(1):123-8. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Smythe GA, Poljak A, Bustamante S, Braga O, Maxwell A, Grant R, Sachdev P: ECNI GC-MS analysis of picolinic and quinolinic acids and their amides in human plasma, CSF, and brain tissue. Adv Exp Med Biol. 2003;527:705-12. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Smythe GA, Poljak A, Bustamante S, Braga O, Maxwell A, Grant R, Sachdev P: ECNI GC-MS analysis of picolinic and quinolinic acids and their amides in human plasma, CSF, and brain tissue. Adv Exp Med Biol. 2003;527:705-12. [PubMed ]
Trimethylaminuria (OMIM: 602079 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00906 Trimethylamine Blood; CSF; Saliva; Urine 9246418 http://www.metagene.de/program/d.prg?mp=TRIMETHYLAMINURIA HMDB00925 Trimethylamine N-oxide Blood; Saliva; Urine Maschke S, Wahl A, Azaroual N, Boulet O, Crunelle V, Imbenotte M, Foulard M, Vermeersch G, Lhermitte M: 1H-NMR analysis of trimethylamine in urine for the diagnosis of fish-odour syndrome. Clin Chim Acta. 1997 Jul 25;263(2):139-46. [PubMed ]
Tuberculosis (OMIM: 607948 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00161 L-Alanine Blood; CSF; Saliva; Urine Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A: Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem. 1995 May;41(5):744-51. [PubMed ]
Tuberculous meningitis 7 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00034 Adenine Blood; CSF; Urine Rodriguez-Nunez A, Cid E, Rodriguez-Garcia J, Camina F, Rodriguez-Segade S, Castro-Gago M: Neuron-specific enolase, nucleotides, nucleosides, purine bases, oxypurines and uric acid concentrations in cerebrospinal fluid of children with meningitis. Brain Dev. 2003 Mar;25(2):102-6. [PubMed ] HMDB00112 Gamma-Aminobutyric acid Blood; CSF; Saliva; Urine Qureshi GA, Baig SM, Bednar I, Halawa A, Parvez SH: The neurochemical markers in cerebrospinal fluid to differentiate between aseptic and tuberculous meningitis. Neurochem Int. 1998 Feb;32(2):197-203. [PubMed ] HMDB00715 Kynurenic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00070 Pipecolic acid Amniotic Fluid; Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB00232 Quinolinic acid Blood; CSF; Urine Medana IM, Day NP, Salahifar-Sabet H, Stocker R, Smythe G, Bwanaisa L, Njobvu A, Kayira K, Turner GD, Taylor TE, Hunt NH: Metabolites of the kynurenine pathway of tryptophan metabolism in the cerebrospinal fluid of Malawian children with malaria. J Infect Dis. 2003 Sep 15;188(6):844-9. Epub 2003 Sep 9. [PubMed ] HMDB04085 Tuberculostearic acid French GL, Teoh R, Chan CY, Humphries MJ, Cheung SW, O'Mahony G: Diagnosis of tuberculous meningitis by detection of tuberculostearic acid in cerebrospinal fluid. Lancet. 1987 Jul 18;2(8551):117-9. [PubMed ] HMDB00294 Urea Blood; Cellular Cytoplasm; CSF; Urine Subramanian A, Gupta A, Saxena S, Gupta A, Kumar R, Nigam A, Kumar R, Mandal SK, Roy R: Proton MR CSF analysis and a new software as predictors for the differentiation of meningitis in children. NMR Biomed. 2005 Jun;18(4):213-25. [PubMed ]
Tyrosine hydroxylase deficiency (OMIM: 191290 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00118 Homovanillic acid Blood; CSF; Urine Brautigam C, Wevers RA, Jansen RJ, Smeitink JA, de Rijk-van Andel JF, Gabreels FJ, Hoffmann GF: Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem. 1998 Sep;44(9):1897-904. [PubMed ]
Tyrosinemia (OMIM: 276700 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00635 Succinylacetone Amniotic Fluid; Blood; Urine Cyr D, Giguere R, Villain G, Lemieux B, Drouin R: A GC/MS validated method for the nanomolar range determination of succinylacetone in amniotic fluid and plasma: an analytical tool for tyrosinemia type I. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Feb 17;832(1):24-9. Epub 2006 Jan 18. [PubMed ]
Tyrosinemia I (OMIM: 276700 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00866 N-Acetyl-L-tyrosine Blood; Urine Metagene: TYROSINEMIA I HMDB00635 Succinylacetone Amniotic Fluid; Blood; Urine Metagene: TYROSINEMIA I
Uremia 5 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03331 1-Methyladenosine Blood; Urine 9607216 [PubMed ] HMDB01563 1-Methylguanosine Blood; Urine Niwa T, Takeda N, Yoshizumi H: RNA metabolism in uremic patients: accumulation of modified ribonucleosides in uremic serum. Technical note. Kidney Int. 1998 Jun;53(6):1801-6. [PubMed ] HMDB05960 D-Pipecolic acid Blood Fujita T, Amuro Y, Hada T, Higashino K: Plasma levels of pipecolic acid, both L- and D-enantiomers, in patients with chronic liver diseases, especially hepatic encephalopathy. Clin Chim Acta. 1999 Sep;287(1-2):99-109. [PubMed ] HMDB00168 L-Asparagine Blood; CSF; Urine Canepa A, Filho JC, Gutierrez A, Carrea A, Forsberg AM, Nilsson E, Verrina E, Perfumo F, Bergstrom J: Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children. Nephrol Dial Transplant. 2002 Mar;17(3):413-21. [PubMed ] HMDB00214 Ornithine Blood; CSF; Saliva; Urine Canepa A, Filho JC, Gutierrez A, Carrea A, Forsberg AM, Nilsson E, Verrina E, Perfumo F, Bergstrom J: Free amino acids in plasma, red blood cells, polymorphonuclear leukocytes, and muscle in normal and uraemic children. Nephrol Dial Transplant. 2002 Mar;17(3):413-21. [PubMed ]
Very Long Chain Acyl-CoA Dehydrogenase Deficiency 14 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00499 5-Tetradecenoic acid Blood Onkenhout W, Venizelos V, van der Poel PF, van den Heuvel MP, Poorthuis BJ: Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. Clin Chem. 1995 Oct;41(10):1467-74. [PubMed ] HMDB00521 5Z-Tetradecenoic acid Blood 10384388 [PubMed ] HMDB02013 Butyrylcarnitine Blood; CSF Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB02014 cis-5-Tetradecenoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00651 Decanoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB02250 Dodecanoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00705 Hexanoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00736 Isobutyryl-L-carnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00688 Isovalerylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00201 L-Acetylcarnitine Blood; CSF; Urine Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00791 L-Octanoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB00222 L-Palmitoylcarnitine Blood; Urine Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB05066 Tetradecanoylcarnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ] HMDB06317 trans-Hexadec-2-enoyl carnitine Blood Costa CG, Struys EA, Bootsma A, ten Brink HJ, Dorland L, Tavares de Almeida I, Duran M, Jakobs C: Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. J Lipid Res. 1997 Jan;38(1):173-82. [PubMed ]
Vessel occlusion 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB01989 Tungsten Blood; CSF; Urine Peuster M, Fink C, von Schnakenburg C, Hausdorf G: Dissolution of tungsten coils does not produce systemic toxicity, but leads to elevated levels of tungsten in the serum and recanalization of the previously occluded vessel. Cardiol Young. 2002 May;12(3):229-35. [PubMed ]
Viral infection 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00159 L-Phenylalanine Blood; CSF; Saliva; Urine Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ] HMDB00158 L-Tyrosine Blood; CSF; Saliva; Urine Wannemacher RW Jr, Klainer AS, Dinterman RE, Beisel WR: The significance and mechanism of an increased serum phenylalanine-tyrosine ratio during infection. Am J Clin Nutr. 1976 Sep;29(9):997-1006. [PubMed ]
Vitamin B12 deficiency 3 metabolites
HMDB ID Name Biofluid Location(s) References HMDB03640 Beta-Leucine Blood Stabler SP, Lindenbaum J, Allen RH: Failure to detect beta-leucine in human blood or leucine 2,3-aminomutase in rat liver using capillary gas chromatography-mass spectrometry. J Biol Chem. 1988 Apr 25;263(12):5581-8. [PubMed ] HMDB00099 L-Cystathionine Blood; CSF; Urine Stabler SP, Lindenbaum J, Savage DG, Allen RH: Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood. 1993 Jun 15;81(12):3404-13. [PubMed ] HMDB00202 Methylmalonic acid Blood; CSF; Urine Hoffmann GF, Meier-Augenstein W, Stockler S, Surtees R, Rating D, Nyhan WL: Physiology and pathophysiology of organic acids in cerebrospinal fluid. J Inherit Metab Dis. 1993;16(4):648-69. [PubMed ]
Vitiligo (OMIM: 193200 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00073 Dopamine Blood; CSF; Urine Cucchi ML, Frattini P, Santagostino G, Preda S, Orecchia G: Catecholamines increase in the urine of non-segmental vitiligo especially during its active phase. Pigment Cell Res. 2003 Apr;16(2):111-6. [PubMed ]
Wilson's disease (OMIM: 277900 ) 2 metabolites
HMDB ID Name Biofluid Location(s) References HMDB00657 Copper Blood; CSF; Urine Metagene: WILSON DISEASE HMDB00138 Glycocholic acid Blood; Urine Matsui A, Psacharopoulos HT, Mowat AP, Portmann B, Murphy GM: Radioimmunoassay of serum glycocholic acid, standard laboratory tests of liver function and liver biopsy findings: comparative study of children with liver disease. J Clin Pathol. 1982 Sep;35(9):1011-7. [PubMed ]
Xanthinuria type 1 (OMIM: 278300 ) 1 metabolite
HMDB ID Name Biofluid Location(s) References HMDB00292 Xanthine Blood; CSF; Urine Metagene: XANTHINURIA TYPE I