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Displaying diseases 251 - 260 of 660 in total
Friedreich's ataxia  (229300 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Thiamine (HMDB0000235) Blood0.18 +/- 0.066 uMAbnormalAdult (>18 years old)Both details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.115 +/- 0.0464 uMAbnormalAdult (>18 years old)Both details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.17 +/- 0.01 uMAbnormalNot SpecifiedNot Specified details
Vanylglycol (HMDB0001490) Cerebrospinal Fluid (CSF)0.042 +/- 0.0022 uMAbnormalNot SpecifiedNot Specified details
Thiamine (HMDB0000235) Cerebrospinal Fluid (CSF)0.1 +/- 0.01 uMAbnormalNot SpecifiedNot Specified details
L-Tryptophan (HMDB0000929) Cerebrospinal Fluid (CSF)2.4 +/- 0.13 uMAbnormalNot SpecifiedNot Specified details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.1 +/- 0.01 uMAbnormalAdult (>18 years old)Both details
Frontotemporal dementia  (600274 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Glycine (HMDB0000123) Saliva120.76 +/- 85.97 uMAbnormalAdult (>18 years old)Male details
Pyruvic acid (HMDB0000243) Saliva72.05 +/- 29.52 uMAbnormalAdult (>18 years old)Male details
L-Lactic acid (HMDB0000190) Saliva811.10 +/- 931.32 uMAbnormalAdult (>18 years old)Male details
Putrescine (HMDB0001414) Saliva27.12 +/- 15.48 uMAbnormalAdult (>18 years old)Male details
beta-Alanine (HMDB0000056) Saliva3.33 +/- 1.32 uMAbnormalAdult (>18 years old)Male details
L-Alanine (HMDB0000161) Saliva36.63 +/- 16.68 uMAbnormalAdult (>18 years old)Male details
Sarcosine (HMDB0000271) Saliva20.53 +/- 27.29 uMAbnormalAdult (>18 years old)Male details
3-Hydroxybutyric acid (HMDB0000011) Saliva6.37 +/- 1.75 uMAbnormalAdult (>18 years old)Male details
2-Hydroxybutyric acid (HMDB0000008) Saliva7.30 +/- 1.32 uMAbnormalAdult (>18 years old)Male details
gamma-Aminobutyric acid (HMDB0000112) Saliva1.78 +/- 0.50 uMAbnormalAdult (>18 years old)Male details
Choline (HMDB0000097) Saliva32.52 +/- 8.23 uMAbnormalAdult (>18 years old)Male details
L-Serine (HMDB0000187) Saliva23.41 +/- 14.42 uMAbnormalAdult (>18 years old)Male details
Creatinine (HMDB0000562) Saliva9.65 +/- 3.44 uMAbnormalAdult (>18 years old)Male details
L-Proline (HMDB0000162) Saliva48.08 +/- 21.24 uMAbnormalAdult (>18 years old)Male details
Betaine (HMDB0000043) Saliva14.04 +/- 14.30 uMAbnormalAdult (>18 years old)Male details
L-Valine (HMDB0000883) Saliva4.77 +/- 1.15 uMAbnormalAdult (>18 years old)Male details
L-Threonine (HMDB0000167) Saliva4.36 +/- 1.21 uMAbnormalAdult (>18 years old)Male details
Creatine (HMDB0000064) Saliva26.61 +/- 5.64 uMAbnormalAdult (>18 years old)Male details
L-Isoleucine (HMDB0000172) Saliva1.22 +/- 0.30 uMAbnormalAdult (>18 years old)Male details
L-Leucine (HMDB0000687) Saliva3.74 +/- 0.65 uMAbnormalAdult (>18 years old)Male details
Malic acid (HMDB0000156) Saliva18.70 +/- 15.26 uMAbnormalAdult (>18 years old)Male details
L-Asparagine (HMDB0000168) Saliva0.97 +/- 1.12 uMAbnormalAdult (>18 years old)Male details
Ornithine (HMDB0000214) Saliva24.28 +/- 12.91 uMAbnormalAdult (>18 years old)Male details
L-Aspartic acid (HMDB0000191) Saliva11.32 +/- 3.39 uMAbnormalAdult (>18 years old)Male details
Adenine (HMDB0000034) Saliva0.87 +/- 0.78 uMAbnormalAdult (>18 years old)Male details
Hypoxanthine (HMDB0000157) Saliva2.99 +/- 1.49 uMAbnormalAdult (>18 years old)Male details
Spermidine (HMDB0001257) Saliva0.72 +/- 0.39 uMAbnormalAdult (>18 years old)Male details
L-Glutamine (HMDB0000641) Saliva19.49 +/- 3.73 uMAbnormalAdult (>18 years old)Male details
L-Lysine (HMDB0000182) Saliva41.71 +/- 22.55 uMAbnormalAdult (>18 years old)Male details
D-Glutamic acid (HMDB0003339) Saliva43.79 +/- 10.57 uMAbnormalAdult (>18 years old)Male details
Guanine (HMDB0000132) Saliva1.20 +/- 0.33 uMAbnormalAdult (>18 years old)Male details
L-Histidine (HMDB0000177) Saliva23.31 +/- 8.62 uMAbnormalAdult (>18 years old)Male details
L-Phenylalanine (HMDB0000159) Saliva9.01 +/- 2.41 uMAbnormalAdult (>18 years old)Male details
Phosphoenolpyruvic acid (HMDB0000263) Saliva2.45 +/- 3.70 uMAbnormalAdult (>18 years old)Male details
Dihydroxyacetone phosphate (HMDB0001473) Saliva10.80 +/- 9.74 uMAbnormalAdult (>18 years old)Male details
Glycerol 3-phosphate (HMDB0000126) Saliva18.18 +/- 11.57 uMAbnormalAdult (>18 years old)Male details
cis-Aconitic acid (HMDB0000072) Saliva2.17 +/- 0.53 uMAbnormalAdult (>18 years old)Male details
L-Arginine (HMDB0000517) Saliva18.89 +/- 1.07 uMAbnormalAdult (>18 years old)Male details
Citrulline (HMDB0000904) Saliva17.48 +/- 14.00 uMAbnormalAdult (>18 years old)Male details
L-Tyrosine (HMDB0000158) Saliva25.82 +/- 9.25 uMAbnormalAdult (>18 years old)Male details
3-Phosphoglyceric acid (HMDB0000807) Saliva7.73 +/- 6.31 uMAbnormalAdult (>18 years old)Male details
Isocitric acid (HMDB0000193) Saliva3.28 +/- 1.43 uMAbnormalAdult (>18 years old)Male details
Citric acid (HMDB0000094) Saliva67.38 +/- 26.37 uMAbnormalAdult (>18 years old)Male details
L-Tryptophan (HMDB0000929) Saliva0.40 +/- 0.21 uMAbnormalAdult (>18 years old)Male details
D-Ribose 5-phosphate (HMDB0001548) Saliva1.32 +/- 0.68 uMAbnormalAdult (>18 years old)Male details
D-Ribulose 5-phosphate (HMDB0000618) Saliva3.16 +/- 1.86 uMAbnormalAdult (>18 years old)Male details
Cytidine (HMDB0000089) Saliva0.48 +/- 0.23 uMAbnormalAdult (>18 years old)Male details
Glucose 1-phosphate (HMDB0001586) Saliva0.94 +/- 0.22 uMAbnormalAdult (>18 years old)Male details
Glucose 6-phosphate (HMDB0001401) Saliva5.51 +/- 3.94 uMAbnormalAdult (>18 years old)Male details
Fructose 6-phosphate (HMDB0000124) Saliva1.46 +/- 0.81 uMAbnormalAdult (>18 years old)Male details
Adenosine (HMDB0000050) Saliva0.48 +/- 0.32 uMAbnormalAdult (>18 years old)Male details
D-Sedoheptulose 7-phosphate (HMDB0001068) Saliva0.84 +/- 0.13 uMAbnormalAdult (>18 years old)Male details
Oxidized glutathione (HMDB0003337) Saliva0.58 +/- 0.47 uMAbnormalAdult (>18 years old)Male details
Cytidine monophosphate (HMDB0000095) Saliva1.02 +/- 0.31 uMAbnormalAdult (>18 years old)Male details
Uridine 5'-monophosphate (HMDB0000288) Saliva1.61 +/- 1.18 uMAbnormalAdult (>18 years old)Male details
Adenosine monophosphate (HMDB0000045) Saliva3.72 +/- 4.53 uMAbnormalAdult (>18 years old)Male details
Fructose intolerance, hereditary  (229600 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Lactic acid (HMDB0000190) Blood5200 uMAbnormalChildren (1-13 years old)Male details
L-Lactic acid (HMDB0000190) Urine22717.959 (5146.0569-92252.484) umol/mmol creatinineAbnormalAdult (>18 years old)Not Available details
Uric acid (HMDB0000289) Urine2084.857 (807.0416-3160.913) umol/mmol creatinineAbnormalAdult (>18 years old)Not Available details
Magnesium (HMDB0000547) Urine13024.810 (4186.546-22328.245) umol/mmol creatinineAbnormalAdult (>18 years old)Not Available details
Phosphorus (HMDB0001315) Urine2660.423 (1330.212-35583.159) umol/mmol creatinineAbnormalAdult (>18 years old)Not Available details
Fructose-1,6-diphosphatase deficiency  (229700 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
D-Glucose (HMDB0000122) Blood1110.15 uMAbnormalInfant (0-1 year old)Female details
Uric acid (HMDB0000289) Blood713.817 uMAbnormalInfant (0-1 year old)Female details
D-Glucose (HMDB0000122) Blood2220.299 uMAbnormalInfant (0-1 year old)Female details
D-Glucose (HMDB0000122) Blood444.0598-555.0748 uMAbnormalChildren (1-13 years old)Female details
L-Lactic acid (HMDB0000190) Blood20000 uMAbnormalInfant (0-1 year old)Female details
L-Lactic acid (HMDB0000190) Blood6000-10000 uMAbnormalInfant (0-1 year old)Female details
Pyruvic acid (HMDB0000243) Blood500 uMAbnormalInfant (0-1 year old)Female details
Carbon dioxide (HMDB0001967) Blood5000 uMAbnormalInfant (0-1 year old)Female details
Fumarase deficiency  (606812 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Ammonia (HMDB0000051) Blood139 - 299 uMAbnormalInfant (0-1 year old)Male details
L-Tyrosine (HMDB0000158) Blood257 uMAbnormalInfant (0-1 year old)Male details
L-Threonine (HMDB0000167) Blood313 uMAbnormalInfant (0-1 year old)Male details
L-Asparagine (HMDB0000168) Blood99 uMAbnormalInfant (0-1 year old)Male details
L-Histidine (HMDB0000177) Blood130 uMAbnormalInfant (0-1 year old)Male details
L-Lysine (HMDB0000182) Blood107 uMAbnormalInfant (0-1 year old)Male details
L-Serine (HMDB0000187) Blood263 uMAbnormalInfant (0-1 year old)Male details
Ornithine (HMDB0000214) Blood77 uMAbnormalInfant (0-1 year old)Male details
L-Glutamine (HMDB0000641) Blood430 uMAbnormalInfant (0-1 year old)Male details
L-Leucine (HMDB0000687) Blood66 uMAbnormalInfant (0-1 year old)Male details
L-Methionine (HMDB0000696) Blood70 uMAbnormalInfant (0-1 year old)Male details
Citrulline (HMDB0000904) Blood181 uMAbnormalInfant (0-1 year old)Male details
Pyruvic acid (HMDB0000243) Cerebrospinal Fluid (CSF)253 - 345 uMAbnormalInfant (0-1 year old)Male details
p-Hydroxyphenylacetic acid (HMDB0000020) Urine24.522 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Glycolic acid (HMDB0000115) Urine5.947 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Fumaric acid (HMDB0000134) Urine482.3 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Fumaric acid (HMDB0000134) Urine2269.534 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Fumaric acid (HMDB0000134) Urine151-772 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Fumaric acid (HMDB0000134) Urine217-445 umol/mmol creatinineAbnormalChildren (1 - 13 years old)Female details
Fumaric acid (HMDB0000134) Urine313.400-493.200 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
L-Tyrosine (HMDB0000158) Urine35.150-369 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Threonine (HMDB0000167) Urine226.200-1060 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Asparagine (HMDB0000168) Urine20.700-447 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Histidine (HMDB0000177) Urine246.700-642.700 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Lysine (HMDB0000182) Urine268.300-365.200 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Serine (HMDB0000187) Urine341.600-735 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
L-Cystine (HMDB0000192) Urine135.900-156.400 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Methylmalonic acid (HMDB0000202) Urine3.83 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Ornithine (HMDB0000214) Urine92.570-123.800 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Succinic acid (HMDB0000254) Urine141.698 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
3-Hydroxybutyric acid (HMDB0000011) Urine351.872 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Adipic acid (HMDB0000448) Urine4.642 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
L-Glutamine (HMDB0000641) Urine154-512 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Glutaric acid (HMDB0000661) Urine5.135 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
L-Leucine (HMDB0000687) Urine53.900-17.750 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
SAICAR (HMDB0000797) Urine<0.300 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Citrulline (HMDB0000904) Urine63.800-549.400 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Succinyladenosine (HMDB0000912) Urine14.6 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Succinyladenosine (HMDB0000912) Urine14.200-24.400 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Oxalic acid (HMDB0002329) Urine84.134 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
2-oxoglutarate(2-) (HMDB0062781) Urine1172.1 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
2-oxoglutarate(2-) (HMDB0062781) Urine385.200-1367.300 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Oxoglutaric acid (HMDB0000208) Urine1172.1 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Oxoglutaric acid (HMDB0000208) Urine385.200-1367.300 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Functional hypothalamic amenorrhea
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Cortisol (HMDB0000063) Cerebrospinal Fluid (CSF)0.0001+/- 0.00001 uMAbnormalAdult (>18 years old)Female details
Gaba-transaminase deficiency  (613163 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
beta-Alanine (HMDB0000056) Blood23.0 uMAbnormalChildren (1-13 years old)Both details
gamma-Aminobutyric acid (HMDB0000112) Blood1.0 (0.0-2.0) uMAbnormalAdult (>18 years old)Both details
gamma-Aminobutyric acid (HMDB0000112) Blood1.45 (0.00-2.9) uMAbnormalChildren (1-13 years old)Both details
beta-Alanine (HMDB0000056) Cerebrospinal Fluid (CSF)0.03 (0.00-0.06) uMAbnormalAdult (>18 years old)Both details
beta-Alanine (HMDB0000056) Cerebrospinal Fluid (CSF)0.48 uMAbnormalChildren (1-13 years old)Both details
gamma-Aminobutyric acid (HMDB0000112) Cerebrospinal Fluid (CSF)0.05 (0.00-0.10) uMAbnormalAdult (>18 years old)Both details
gamma-Aminobutyric acid (HMDB0000112) Cerebrospinal Fluid (CSF)2.4 (0.00-4.8) uMAbnormalChildren (1-13 years old)Both details
beta-Alanine (HMDB0000056) Urine0.0-2.3 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Galactose-1-phosphate uridyltransferase deficiency  (230400 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
D-Galactose (HMDB0000143) Blood2.72 (0.58-3.98) uMAbnormalInfant (0-1 year old)Both details
Galactosemia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Galactitol (HMDB0000107) Amniotic Fluid7.96 uMAbnormalAdult (>18 years old)Both details
Galactitol (HMDB0000107) Blood11.63 +/- 0.46 uMAbnormalAdult (>18 years old)Both details
Galactonic acid (HMDB0000565) Blood3.00 (0.68 - 6.47) uMAbnormalChildren (1-13 years old)Not Specified details
D-Galactose (HMDB0000143) Cellular Cytoplasm1496.5 (921.0 - 2070) uMAbnormalChildren (1-13 years old)Both details
Galactitol (HMDB0000107) Urine38500 (8000-69000) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Galactitol (HMDB0000107) Urine472.5 (45-900) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Galactosemia type 1  (230400 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
D-Galactose (HMDB0000143) Blood2.72 (0.58-3.98) uMAbnormalInfant (0-1 year old)Both details
Glycocholic acid (HMDB0000138) Blood2.9 +/- 2.4 uMAbnormalChildren (1-13 years old)Not Specified details
D-Galactose (HMDB0000143) Blood2.720 (0.580-3.980) uMAbnormalInfant (0-1 year old)Both details
Displaying diseases 251 - 260 of 660 in total