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Displaying diseases 71 - 80 of 659 in total
Argininemia  (207800 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Arginine (HMDB0000517) Blood73.0 (6.0-140.0) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
L-Arginine (HMDB0000517) Blood1250.0 (1000.0-1500.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
L-Arginine (HMDB0000517) Blood907 uMAbnormalChildren (1-13 years old)Male details
L-Arginine (HMDB0000517) Blood252-1579.200 uMAbnormalChildren (1-13 years old)Female details
L-Arginine (HMDB0000517) Blood68-422 uMAbnormalNewborn (0-30 days old)Not Specified details
L-Arginine (HMDB0000517) Cerebrospinal Fluid (CSF)88000 uMAbnormalChildren (1-13 years old)Female details
L-Arginine (HMDB0000517) Cerebrospinal Fluid (CSF)78 uMAbnormalChildren (1-13 years old)Male details
Argininosuccinic acid (HMDB0000052) Urine0.65 (0.0-1.3) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Uracil (HMDB0000300) Urine12.0 (2.0-22.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Uracil (HMDB0000300) Urine35.0 (20.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Uridine (HMDB0000296) Urine67.836 (18.0896-125.497) umol/mmol creatinineAbnormalChildren (1-13 years old)Not Specified details
Uracil (HMDB0000300) Urine321.0904 (290.564-368.576) umol/mmol creatinineAbnormalChildren (1-13 years old)Not Specified details
Uracil (HMDB0000300) Urine144.265 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
Argininosuccinic aciduria  (207900 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) Blood1100.0 (200.0-2000.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Citrulline (HMDB0000904) Blood27.5 (10.0-45.0) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Citrulline (HMDB0000904) Blood200.0 (100.0-300.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Ammonia (HMDB0000051) Blood94 uMAbnormalChildren (1-13 years old)Male details
Ammonia (HMDB0000051) Blood62 uMAbnormalInfant (0-1 year old)Male details
Argininosuccinic acid (HMDB0000052) Blood1515 uMAbnormalInfant (0-1 year old)Male details
Citrulline (HMDB0000904) Blood284 uMAbnormalInfant (0-1 year old)Male details
Argininosuccinic acid (HMDB0000052) Urine1542.00 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Acetic acid (HMDB0000042) Urine54.1 +/- 23.8 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
L-Arginine (HMDB0000517) Urine1941.3 +/- 122.5 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Betaine (HMDB0000043) Urine210.1 +/- 16.4 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Citric acid (HMDB0000094) Urine80.9 +/- 1.8 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Glycine (HMDB0000123) Urine53.1 +/- 1.8 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Hippuric acid (HMDB0000714) Urine20.5 +/- 0.7 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
L-Histidine (HMDB0000177) Urine52.9 +/- 12.5 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Trimethylamine N-oxide (HMDB0000925) Urine38.1 +/- 2.9 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Argininosuccinic acid (HMDB0000052) Urine667 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Argininosuccinyl-CoA lyase deficiency
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Argininosuccinic acid (HMDB0000052) Blood300.0 (270.0-458.0) uMAbnormalChildren (1-13 years old)Female details
Aromatase deficiency  (613546 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Cortisol (HMDB0000063) Blood0.558 uMAbnormalChildren (1-13 years old)Female details
Dehydroepiandrosterone (HMDB0000077) Blood0.0016 uMAbnormalChildren (1-13 years old)Female details
Estrone (HMDB0000145) Blood<0.00004 uMAbnormalChildren (1-13 years old)Female details
Estriol (HMDB0000153) Blood<0.00000002 uMAbnormalChildren (1-13 years old)Female details
Dehydroepiandrosterone sulfate (HMDB0001032) Blood<0.810 uMAbnormalChildren (1-13 years old)Female details
Estradiol (HMDB0000151) Blood<0.000005 uMAbnormalChildren (1-13 years old)Female details
Testosterone (HMDB0000234) Blood<0.000002 uMAbnormalChildren (1-13 years old)Female details
Aromatic L-amino acid decarboxylase deficiency  (608643 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Vanylglycol (HMDB0001490) Cerebrospinal Fluid (CSF)0.003 +/- 0.003 uMAbnormalAdult (>18 years old)Both details
3-Methoxytyrosine (HMDB0001434) Cerebrospinal Fluid (CSF)1.2 (1.0-1.6) uMAbnormalAdult (>18 years old)Not Specified details
3-Methoxytyrosine (HMDB0001434) Cerebrospinal Fluid (CSF)1.2 +/- 0.0 uMAbnormalInfant (0-1 year old)Male details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.0025 (0.0000-0.0050) uMAbnormalInfant (0-1 year old)Male details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.083 +/- 0.000 uMAbnormalInfant (0-1 year old)Male details
Vanylglycol (HMDB0001490) Cerebrospinal Fluid (CSF)0.003 (0.000-0.005) uMAbnormalInfant (0-1 year old)Male details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.128 uMAbnormalInfant (0-1 year old)Female details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.0820-0.149 uMAbnormalChildren (1-13 years old)Female details
5-Hydroxy-L-tryptophan (HMDB0000472) Cerebrospinal Fluid (CSF)0.063 uMAbnormalInfant (0-1 year old)Female details
5-Hydroxy-L-tryptophan (HMDB0000472) Cerebrospinal Fluid (CSF)0.0970-0.136 uMAbnormalChildren (1-13 years old)Female details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.027 uMAbnormalInfant (0-1 year old)Female details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.0120-0.0220 uMAbnormalChildren (1-13 years old)Female details
N-Acetylvanilalanine (HMDB0011716) Urine10 +/- 2 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Vanilpyruvic acid (HMDB0011714) Urine10 +/- 2 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
N-Acetyl-L-tyrosine (HMDB0000866) Urine10 +/- 2 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Vanillylmandelic acid (HMDB0000291) Urine0.15 (0.00-0.30) umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
5-Hydroxyindoleacetic acid (HMDB0000763) Urine0.9 +/- 0.0 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Homovanillic acid (HMDB0000118) Urine2.9 +/- 0.0 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Dopamine (HMDB0000073) Urine2426 +/- 0 nmol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Dopamine (HMDB0000073) Urine3.119 +/- 0 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Dopamine (HMDB0000073) Urine2.7 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Dopamine (HMDB0000073) Urine3.91 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Homovanillic acid (HMDB0000118) Urine15.5 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Homovanillic acid (HMDB0000118) Urine34.1 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
L-Dopa (HMDB0000181) Urine8.683 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
L-Dopa (HMDB0000181) Urine11.38 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Serotonin (HMDB0000259) Urine0.188 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Serotonin (HMDB0000259) Urine0.221 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Vanillylmandelic acid (HMDB0000291) Urine0.5 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Vanillylmandelic acid (HMDB0000291) Urine0.9 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
5-Hydroxyindoleacetic acid (HMDB0000763) Urine0.2 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
5-Hydroxyindoleacetic acid (HMDB0000763) Urine2.2 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Normetanephrine (HMDB0000819) Urine0.016 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Normetanephrine (HMDB0000819) Urine0.055 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Vanillactic acid (HMDB0000913) Urine11.3 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
Vanillactic acid (HMDB0000913) Urine12.7 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Aseptic meningitis
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Leukotriene B4 (HMDB0001085) Cerebrospinal Fluid (CSF)0.00477 +/- 0.000813 uMAbnormalChildren (1-13 years old)Not Specified details
Leukotriene C4 (HMDB0001198) Cerebrospinal Fluid (CSF)0.000185 +/- 0.00007628 uMAbnormalChildren (1-13 years old)Not Specified details
Aspartylglucosaminuria  (208400 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Aspartylglycosamine (HMDB0000489) Urine0.6 (0.20-1.00) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Aspartylglycosamine (HMDB0000489) Urine175.0 (100.0-250.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Aspartylglycosamine (HMDB0000489) Urine87.680 (39.963-166.0153) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Aspartylglycosamine (HMDB0000489) Urine70.383 (30.420-97.621) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Asthma  (600807 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
5-HETE (HMDB0011134) Blood1.605 +/- 0.209 uMAbnormalAdult (>18 years old)Both details
1,7-Dimethyluric acid (HMDB0011103) Urine20.0 (5.7-32.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
1,3-Dimethyluric acid (HMDB0001857) Urine33.0 (21.8-52.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
7-Methylxanthine (HMDB0001991) Urine10.0 (2.7-17.8) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
3-Methylxanthine (HMDB0001886) Urine8.0 (5.0-14.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
1-Methylxanthine (HMDB0010738) Urine6.0 (4.0-10.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Theobromine (HMDB0002825) Urine3.6 (1.0-7.3) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Paraxanthine (HMDB0001860) Urine3.6 (1.8-5.4) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Theophylline (HMDB0001889) Urine7.0 (3.2-11.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
1,3,7-Trimethyluric acid (HMDB0002123) Urine2.19 (0.0-5.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Caffeine (HMDB0001847) Urine0.5 (0.0-1.35) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
11b-PGF2a (HMDB0010199) Urine0.00021 (0.000099-0.00039) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
11b-PGF2a (HMDB0010199) Urine0.00044 (0.00016-0.00058) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Chlorotyrosine (HMDB0001885) Urine0.0023 +/- 0.0016 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Isoleucylproline (HMDB0011174) UrineNot AvailableAbnormalChildren (1-13 years old)Both details
Athyreosis
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Iodotyrosine (HMDB0000021) Blood0.00032 +/- 0.00008 uMAbnormalAdult (>18 years old)Both details
ATIC deficiency  (608688 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Uric acid (HMDB0000289) Cerebrospinal Fluid (CSF)22.0 uMAbnormalAdult (>18 years old)Both details
SAICAR (HMDB0000797) Cerebrospinal Fluid (CSF)921.0 (0.0-1842.0) uMAbnormalAdult (>18 years old)Not Specified details
Succinyladenosine (HMDB0000912) Cerebrospinal Fluid (CSF)477.0 uMAbnormalAdult (>18 years old)Not Specified details
SAICAR (HMDB0000797) Cerebrospinal Fluid (CSF)Not AvailableAbnormalChildren (1-13 years old)Female details
SAICAR (HMDB0000797) Urine214 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
AICA-riboside (HMDB0062179) UrineNot AvailableAbnormalInfant (0-1 year old)Female
  • Inborn Metabolic ...
details
SAICAR (HMDB0000797) UrineNot AvailableAbnormalChildren (1-13 years old)Female details
Displaying diseases 71 - 80 of 659 in total