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Browsing Serum Metabolite Concentrations
Clicking on any metabolite link will take you to the Human Metabolome Database.
gamma-Aminobutyric acid (HMDB0000112 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.110 +/- 0.023 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 1.84 +/- 0.215 uM | Abnormal | Alzheimer's disease | Elderly (>65 years old) | Both | details | |
| Blood | 0.46 +/- 0.11 uM | Abnormal | Hepatic encephalopathy | Adult (>18 years old) | Both | details | |
| Blood | 1.0 (0.0-2.0) uM | Abnormal | Gaba-transaminase deficiency | Adult (>18 years old) | Both |
| details |
| Blood | 1.45 (0.00-2.9) uM | Abnormal | GABA transaminase deficiency | Children (1-13 years old) | Both |
| details |
| Blood | 0.120-0.500 uM | Normal | Normal | Children (1 - 13 years old) | Both |
| details |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Glycolic acid (HMDB0000115 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 7.9 +/- 2.4 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 48.0 (40.0 - 56.0) uM | Abnormal | Ethylene Glycol Poisoning | Adult (>18 years old) | Both | details | |
| Blood | 7.3 +/- 10.1 uM | Abnormal | Hemodialysis | Adult (>18 years old) | Both | details | |
| Blood | 0.6 +/- 2.3 uM | Abnormal | Hemodialysis | Adult (>18 years old) | Both | details | |
| Blood | 7.8 +/- 1.7 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0 uM | Abnormal | Branched-chain Keto Acid Dehydrogenase Kinase Deficiency | Adult (>18 years old) | Female | details | |
| Blood | 0 uM | Abnormal | Branched-chain Keto Acid Dehydrogenase Kinase Deficiency | Adolescent (13-18 years old) | Female | details | |
| Blood | 50-123 uM | Normal | Normal | Adolescent (13-18 years old) | Female | details | |
| Blood | 34 uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Folic acid (HMDB0000121 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.016 +/- 0.0049 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.003 (0.0 - 0.007) uM | Abnormal | Folate deficiency | Adult (>18 years old) | Both |
| details |
| Blood | 0.02 (0.011- 0.036) uM | Normal | Normal | Adult (>18 years old) | Both |
| details |
| Blood | 0.039 (0.01 - 0.14) uM | Normal | Normal | Newborn (0-30 days old) | Not Specified |
| details |
| Blood | 0.011 (0.004 - 0.028) uM | Normal | Normal | Children (1-13 years old) | Not Specified |
| details |
| Blood | 0.009 (0.0024 - 0.024) uM | Normal | Normal | Adult (>18 years old) | Not Specified |
| details |
| Blood | 0.009 (0.0026-0.026) uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 0.023 (0.019-0.028) uM | Abnormal | Rheumatoid arthritis | Adult (>18 years old) | Both | details | |
| Blood | 0.021 (0.017-0.025) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.023 (0.020-0.026) uM | Abnormal | Rheumatoid arthritis | Adult (>18 years old) | Both | details | |
| Blood | 0.023 (0.002-0.045) uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 0.024 uM | Normal | Normal | Infant (5 days - <1 year old) | Both |
| details |
| Blood | 0.0088 uM | Normal | Normal | Children (1 - <3 years old) | Both |
| details |
| Blood | 0.027 uM | Normal | Normal | Children (3 - <6 years old) | Both |
| details |
| Blood | 0.0297 uM | Normal | Normal | Children (6 - <8 years old) | Both |
| details |
| Blood | 0.0258 uM | Normal | Normal | Children (8 - <12 years old) | Both |
| details |
| Blood | 0.027 uM | Normal | Normal | Adolescent (12 - <14 years old) | Both |
| details |
| Blood | 0.0179 uM | Normal | Normal | Adolescent (14 - <19 years old | Both |
| details |
| Blood | 0.00204 uM | Abnormal | Hereditary folate malabsorption | Infant (0-1 year old) | Female | details | |
| Blood | 0.00131 uM | Abnormal | Hereditary folate malabsorption | Infant (0-1 year old) | Male | details | |
| Blood | 0.0295-0.0340 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 0.00544-0.0272 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 0.0097 uM | Abnormal | Dimethylglycinuria | Adult (>18 years old) | Male | details | |
| Blood | 0.00400-0.0150 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
D-Glucose (HMDB0000122 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 2200.0 (1100.0 - 3300.0) uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 2750.0 (2200.0-3300.0) uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 4450.0 (3300.0 - 5600.0) uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 5450.0 (4200.0 - 6700.0) uM | Normal | Normal | Elderly (>65 years old) | Both |
| details |
| Blood | 5300.0 (4900.0 - 5700.0) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4750.0 +/- 184.0 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 4440.0 +/- 370.0 uM | Normal | Normal | Adult (>18 years old) | Both |
| details |
| Blood | 4570.0 +/- 411.0 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 4470.0 +/- 346.0 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 4380 +/-275 uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 4440.0 +/- 100.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4470.0 +/- 110.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 5350.0 +/- 120.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 5500.0 +/- 160.0 uM | Abnormal | Growth hormone deficiency | Adult (>18 years old) | Both | details | |
| Blood | 6000.0 (5000.0 - 6800.0) uM | Abnormal | Acute myelogenous leukemia (AML) | Adult (>18 years old) | Both | details | |
| Blood | 5400.0 (4700.0 - 6100.0) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 5114.0 +/- 483.0 uM | Abnormal | Hyperlipidaemia | Adult (>18 years old) | Both | details | |
| Blood | 5181.0 +/- 394.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4400.0 (3300.0-5500.0) uM | Abnormal | 3-methyl-crotonyl-glycinuria | Adult (>18 years old) | Both |
| details |
| Blood | 1750.0 (500.0-3000.0) uM | Abnormal | 3-Methyl-crotonyl-glycinuria | Children (1-13 years old) | Both |
| details |
| Blood | 1750.00 (500.00-3000.00) uM | Abnormal | Hypoadrenocorticism | Children (1-13 years old) | Both |
| details |
| Blood | >11100 uM | Abnormal | Diabetes mellitus | Adult (>18 years old) | Both |
| details |
| Blood | >7000 uM | Abnormal | Diabetes mellitus | Adult (>18 years old) | Both |
| details |
| Blood | 4971.3 +/- 372.8 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 3743 +/- 1272.9 uM | Abnormal | Heart Transplant | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4000.0-6000.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4194.1 (1229.6) uM | Abnormal | Early preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 3702.2 (713.5) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 4312.9 (1783.0) uM | Abnormal | Late-onset preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 3362.4 (765.9) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 245.5 (96.0) uM | Abnormal | Down syndrome pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 217.3 (73.8) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 4133.0 +/- 903.7 uM | Abnormal | Pregnancy with fetuses with trisomy 18 | Adult (>18 years old) | Female | details | |
| Blood | 3848.99 +/- 783.5 uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 3241.19 (898.95) uM | Abnormal | Pregnancy with fetus having congenital heart defect | Adult (>18 years old) | Female | details | |
| Blood | 3171.93 (754.22) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 5535.11(1872.49) uM | Abnormal | Heart failure with preserved ejection fraction | Adult (>18 years old) | Both | details | |
| Blood | 4894.19(1723.06) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 1909.457 +/- 233.131 uM | Abnormal | Glucagon deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 4995.673-5106.688 uM | Abnormal | Primary Hypomagnesemia | Adult (>18 years old) | Male | details | |
| Blood | 900-2200 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Infant (0-1 year old) | Both | details | |
| Blood | 200-2200 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Newborn (0-30 days old) | Both | details | |
| Blood | 2800 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | Children (1-13 years old) | Male | details | |
| Blood | 1000-4100 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | Children (1-13 years old) | Male | details | |
| Blood | 2800 uM | Abnormal | 2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD) | Newborn (0-30 days old) | Male | details | |
| Blood | 3100-5600 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 5828.285-15264.557 uM | Abnormal | 21-hydroxylase deficiency | Adult (>18 years old) | Female | details | |
| Blood | 2997.404 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Adolescent (13-18 years old) | Female | details | |
| Blood | 3108.419 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Adult (>18 years old) | Male | details | |
| Blood | 2053.777-2220.299 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Children (1-13 years old) | Both | details | |
| Blood | 2164.792-2553.344 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Infant (0-1 year old) | Female | details | |
| Blood | 1300-1400 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Infant (0-1 year old) | Female | details | |
| Blood | <2600 uM | Abnormal | Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency | Infant (0-1 year old) | Not Specified | details | |
| Blood | 2300 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 2800-5000 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 800-1600 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Newborn (0-30 days old) | Both | details | |
| Blood | 2200 uM | Abnormal | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | Newborn (0-30 days old) | Male | details | |
| Blood | 333.0449 uM | Abnormal | Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | Newborn (0-30 days old) | Female | details | |
| Blood | 555.0748 uM | Abnormal | Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | Newborn (0-30 days old) | Female | details | |
| Blood | 2100-2700 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Infant (0-1 year old) | Male | details | |
| Blood | 3300-5600 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 166.522 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Newborn (0-30 days old) | Male | details | |
| Blood | 3885.524-6105.823 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 4823.600 +/- 249.784 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 4812.499 +/- 288.639 uM | Abnormal | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Children (1-13 years old) | Both | details | |
| Blood | 5112.239 +/- 427.408 uM | Abnormal | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Children (1-13 years old) | Both | details | |
| Blood | 4695.933 +/- 327.494 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 4235.221 +/- 55.507 uM | Abnormal | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Children (1-13 years old) | Both | details | |
| Blood | 4390.642 +/- 316.393 uM | Abnormal | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | Children (1-13 years old) | Both | details | |
| Blood | 3890 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 3890-5550 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 4860 (4670-5190) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 3300-6900 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 5000 +/- 600 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 6150 (5000-10090) uM | Abnormal | Lipodystrophy | Adult (>18 years old) | Both | details | |
| Blood | 7830 (5220-10890) uM | Abnormal | Lipodystrophy, Congenital Generalized | Adult (>18 years old) | Both | details | |
| Blood | 390 uM | Abnormal | Long-chain Fatty Acids, Defect in Transport of | Infant (0-1 year old) | Female | details | |
| Blood | 400 uM | Abnormal | Infantile Liver Failure Syndrome 2 | Infant (0-1 year old) | Female | details | |
| Blood | 4200-6300 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 3500-6000 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 5060 (4670-6560) uM | Abnormal | Partial lipodystrophy | Adult (>18 years old) | Both | details | |
| Blood | 900 uM | Abnormal | Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic | Newborn (0-30 days old) | Female | details | |
| Blood | 800-3200 uM | Abnormal | Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic | Children (1-13 years old) | Both | details | |
| Blood | 2800 uM | Abnormal | Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic | Children (1-13 years old) | Male | details | |
| Blood | 1110.15 uM | Abnormal | Fructose-1,6-bisphosphatase deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 1665.224-2775.374 uM | Abnormal | Hypoglycemia, familial neonatal | Infant (0-1 year old) | Female | details | |
| Blood | 2553.344 uM | Abnormal | Leigh Syndrome | Infant (0-1 year old) | Male | details | |
| Blood | 2220.299 uM | Abnormal | Fructose-1,6-bisphosphatase deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 1665.224 uM | Abnormal | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | Children (1-13 years old) | Female | details | |
| Blood | 1332.180-9436.272 uM | Abnormal | Donohue Syndrome | Newborn (0-30 days old) | Male | details | |
| Blood | 444.0598-555.0748 uM | Abnormal | Fructose-1,6-bisphosphatase deficiency | Children (1-13 years old) | Female | details | |
| Blood | 4329.583 uM | Abnormal | Leptin Deficiency or Dysfunction | Infant (0-1 year old) | Female | details | |
| Blood | 943.627 uM | Abnormal | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | Infant (0-1 year old) | Female | details | |
| Blood | 3885.524-6105.823 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 4163.0610-6383.360 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | <5994.808 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | 2775.374-10213.376 uM | Abnormal | Proprotein Convertase 1/3 Deficiency | Adult (>18 years old) | Female | details | |
| Blood | 5600-7600 uM | Abnormal | Maturity onset diabetes of the young, type 2 | Adult (>18 years old) | Both | details | |
| Blood | 1940 +/- 570 uM | Abnormal | Hyperinsulinemic hypoglycemia, familial, 1, HHF1 | Children (1-13 years old) | Both | details | |
| Blood | 1900 +/- 700 uM | Abnormal | Hyperinsulinemic hypoglycemia, familial, 1, HHF1 | Children (1-13 years old) | Both | details | |
| Blood | 600-1000 uM | Abnormal | Hyperinsulinemic hypoglycemia, familial, 1, HHF1 | Newborn (0-30 days old) | Both | details | |
| Blood | 700-2600 uM | Abnormal | Mitochondrial trifunctional protein deficiency | Infant (0-1 year old) | Not Specified | details | |
| Blood | 1500 uM | Abnormal | Carnitine palmitoyltransferase deficiency I | Children (1-13 years old) | Male | details | |
| Blood | <100 uM | Abnormal | Carnitine palmitoyltransferase deficiency I | Newborn (0-30 days old) | Male | details | |
| Blood | 390 uM | Abnormal | Carnitine transporter defect; primary systemic carnitine deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 3500-7000 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 9300 +/- 5000 uM | Abnormal | Diabetes and Deafness, Maternally Inherited | Adult (>18 years old) | Both | details | |
| Blood | 4500 +/- 1000 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | <2600 uM | Abnormal | Beckwith-Wiedemann Syndrome | Newborn (0-30 days old) | Both | details | |
| Blood | 6300 +/- 2000 uM | Abnormal | Diabetes and Deafness, Maternally Inherited | Adult (>18 years old) | Both | details | |
| Blood | 6810 (5210-10250) uM | Abnormal | Familial partial lipodystrophy | Adult (>18 years old) | Both | details | |
| Blood | 500-5200 uM | Abnormal | Infantile Liver Failure Syndrome 2 | Children (1-13 years old) | Both | details | |
| Blood | 2164.792 uM | Abnormal | Fanconi Bickel syndrome | Children (1-13 years old) | Female |
| details |
| Blood | 42460 uM | Abnormal | Wolcott-Rallison syndrome | Infant (0-1 year old) | Female |
| details |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 7800(6500-12000) uM | Abnormal | Sepsis | Adult (>18 years old) | Both | details |
Glycine (HMDB0000123 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 280.0 (140.0-420.0) uM | Normal | Normal | Newborn (0-30 days old) | Both | details | |
| Blood | 1090.0 (780.0-1400.0) uM | Abnormal | Non-ketotic hyperglycinemia | Newborn (0-30 days old) | Both | details | |
| Blood | 230.0 (178.0-282.0) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 210.0 (203.0-217.0) uM | Abnormal | Refractory localization-related epilepsy (RLE) | Adult (>18 years old) | Both | details | |
| Blood | 354.0 (309.0-399.0) uM | Abnormal | Juvenile myoclonic epilepsy (JME) | Children (1-13 years old) | Both | details | |
| Blood | 460.0 +/- 275.0 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified |
| details |
| Blood | 234.0 +/- 34.0 uM | Normal | Normal | Children (1-13 years old) | Male |
| details |
| Blood | 242.0 +/- 44.0 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 258.0 +/- 64.0 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 0.153 +/- 0.012 uM | Abnormal | Alzheimer's disease | Elderly (>65 years old) | Both | details | |
| Blood | 212.4 +/- 57.4 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 486.0 (232.0-740.0) uM | Abnormal | D-Glyceric acidemia | Adult (>18 years old) | Both |
| details |
| Blood | 1000.0 (800.0-1200.0) uM | Abnormal | D-Glyceric acidura | Children (1-13 years old) | Both |
| details |
| Blood | 325.4 +/- 126.8 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 234.9 +/- 181.1 uM | Abnormal | Heart Transplant | Adult (>18 years old) | Both | details | |
| Blood | 329.9 +/- 105.6 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 106-272 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 150-350 uM | Normal | Normal | Infant (1 - 3 months old) | Both |
| details |
| Blood | 125-400 uM | Normal | Normal | Children (3 months - 6 years old) | Both |
| details |
| Blood | 140-490 uM | Normal | Normal | Children (6 - 18 years old) | Both |
| details |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Disease | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 255.4 +/- 65.9 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 150.0-440.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 188.0 (42.8) uM | Abnormal | Early preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 239.6 (106.1) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 238.4 (129.3) uM | Abnormal | Late-onset preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 244.0 (115.7) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 5.1 (2.5) uM | Abnormal | Down syndrome pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 4.1 (1.7) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 261.6 (99.4) uM | Abnormal | Pregnancy with fetuses with trisomy 18 | Adult (>18 years old) | Female | details | |
| Blood | 209.8 (74.9) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 141.82 (37.97) uM | Abnormal | Pregnancy with fetus having congenital heart defect | Adult (>18 years old) | Female | details | |
| Blood | 135.06 (40.06) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 290 uM | Abnormal | 3-Methylcrotonyl-CoA Carboxylase Deficiency | Children (1 - 13 years old) | Female | details | |
| Blood | 354.6 uM | Abnormal | Sarcosinemia | Infant (0-1 year old) | Female | details | |
| Blood | <300 uM | Normal | Normal | Children (1 - 13 years old) | Male | details | |
| Blood | 100 - 310 uM | Normal | Normal | Children (1 - 13 years old) | Not Specified | details | |
| Blood | 120-320 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 122-258 uM | Abnormal | Iminoglycinuria | Infant (0-1 year old) | Both | details | |
| Blood | 126-378 uM | Abnormal | N-acetylglutamate synthetase deficiency | Children (1-13 years old) | Male | details | |
| Blood | 213 +/- 35 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 214 +/- 76 uM | Abnormal | Histidinuria | Children (1 - 13 years old) | Male | details | |
| Blood | 254-310 uM | Abnormal | Sarcosinemia | Adult (>18 years old) | Male | details | |
| Blood | 56-308 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 60-310 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 880-1070 uM | Abnormal | Hyperglycinaemia | Children (1 - 13 years old) | Male | details | |
| Blood | 220 +/- 33 uM | Normal | Normal | Children (1 - 13 years old) | Both |
| details |
| Blood | 300 +/- 114 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 236 +/- 43 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 327.8(265.0-397.5) uM | Abnormal | Environmental enteric dysfunction | Children (1-13 uears old) | Both | details | |
| Blood | 304.4(255.1-362.8) uM | Normal | Normal | Children (1-13 uears old) | Both | details | |
| Blood | 229.8 +/- 50.7 uM | Abnormal | Obesity | Children (1-13 years old) | Both |
| details |
| Blood | 238.0 +/- 45.5 uM | Abnormal | Obesity | Children (1-13 years old) | Both |
| details |
| Blood | 175-252 uM | Abnormal | 3-Phosphoglycerate Dehydrogenase Deficiency | Adolescent (13-18 years old) | Both | details | |
| Blood | 147-321 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 3463.591 uM | Abnormal | Glucoglycinuria | Children (1-13 years old) | Male | details | |
| Blood | 306.63 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 105 uM | Abnormal | Neu-Laxova Syndrome 1 | Newborn (0-30 days old) | Male | details | |
| Blood | 180-709 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 906 uM | Abnormal | Hyperglycinemia, lactic acidosis, and seizures | Newborn (0-30 days old) | Male | details | |
| Blood | 100-320 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 126-384 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 228-742 uM | Abnormal | Pyridoxamine 5-prime-phosphate oxidase deficiency | Newborn (0-30 days old) | Both | details | |
| Blood | 263.5 (114-356) uM | Abnormal | Lipoyltransferase 1 Deficiency | Children (1-13 years old) | Male | details | |
| Blood | 63 uM | Abnormal | Neu-Laxova Syndrome 1 | Newborn (0-30 days old) | Male | details | |
| Blood | 149-301 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 184-356 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 140-420 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 200-600 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 80-341 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 121 uM | Abnormal | Phosphoserine Aminotransferase Deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 110 uM | Abnormal | Phosphoserine Aminotransferase Deficiency | Newborn (0-30 days old) | Female | details | |
| Blood | 77-97 uM | Abnormal | Phosphoserine Phosphatase Deficiency | Infant (0-1 year old) | Male | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Guanidoacetic acid (HMDB0000128 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 2.0 (0.0 - 5.0) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 19.0 (3.0-37.0) uM | Normal | Normal | Adult (>18 years old) | Not Specified |
| details |
| Blood | 3.08 (0.87-3.64) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 1.22 +/- 0.40 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 16.8 (0.81-32.9) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 2.8 +/- 0.9 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 2.4 +/- 0.7 uM | Abnormal | Chronic renal failure | Adult (>18 years old) | Both | details | |
| Blood | 1.88 +/- 0.30 uM | Abnormal | uremia | Adult (>18 years old) | Both | details | |
| Blood | 1.90 +/- 0.68 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 17.3-27.0 uM | Abnormal | Cerebral creatine deficiency syndrome 2 | Adult (>18 years old) | Female | details | |
| Blood | 0.2-0.3 uM | Abnormal | Cerebral creatine deficiency syndrome 3 | Children (1-13 years old) | Female | details | |
| Blood | 1.1 uM | Abnormal | Cerebral creatine deficiency syndrome 1 | Children (1-13 years old) | Male | details | |
| Blood | 1.0-3.5 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 0.35-8.0 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 0.7-1.4 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 0.7-3.5 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 1.3-3.3 uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | 1.900 +/- 0.680 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 3.280 +/- 1.230 uM | Abnormal | Uremia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Homogentisic acid (HMDB0000130 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.043 (0.014 - 0.071) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 35.5 (33.0 - 38.0) uM | Abnormal | Alkaptonuria | Adult (>18 years old) | Both | details | |
| Blood | 33.33-46.5 uM | Abnormal | Alkaptonuria | Adult (>18 years old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Glycerol (HMDB0000131 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 4300.0 (1300.0 +/- 7900.0) uM | Abnormal | Glycerol Kinase Deficiency | Children (1-13 years old) | Not Specified | details | |
| Blood | 53.0 (28.0-102.0) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 40.0 +/- 19.0 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 43.0 +/- 9.0 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 50.0 +/- 16.0 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 16.0 +/- 6.0 uM | Abnormal | Diabetes | Adult (>18 years old) | Both | details | |
| Blood | 39.0 +/- 9.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 68.0 (33.0 - 139.0) uM | Normal | Normal | Elderly (>65 years old) | Both | details | |
| Blood | 431.6 +/- 100.4 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 133.9 +/- 87.8 uM | Abnormal | Heart Transplant | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 331.2-532.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 166.5 (42.5) uM | Abnormal | Early preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 484.2 (341.4) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 800.7 (541.7) uM | Abnormal | Late-onset preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 312 (296.8) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 205.7 (57.44) uM | Abnormal | Down syndrome pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 203.1 (79.9) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 281.8 +/- 111.7 uM | Abnormal | Pregnancy with fetuses with trisomy 18 | Adult (>18 years old) | Female | details | |
| Blood | 194.3 +/- 157.44 uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 124.62 (45.58) uM | Abnormal | Pregnancy with fetus having congenital heart defect | Adult (>18 years old) | Female | details | |
| Blood | 133.9(34.38) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 346.48(169.89) uM | Abnormal | Heart failure with preserved ejection fraction | Adult (>18 years old) | Both | details | |
| Blood | 436.26(235.59) uM | Abnormal | Heart failure with reduced ejection fraction | Adult (>18 years old) | Both | details | |
| Blood | 284.6(213.9) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 4500-7900 uM | Abnormal | Glycerol kinase deficiency | Children (1 - 13 years old) | Male | details | |
| Blood | 80-230 uM | Normal | Normal | Children (1 - 13 years old) | Male | details | |
| Blood | 50 +/- 16 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 43 +/- 9 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Guanosine (HMDB0000133 )
Glycocholic acid (HMDB0000138 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.88 +/- 0.26 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 43.6 +/- 11.8 uM | Abnormal | Hepatobiliary Disease | Adult (>18 years old) | Both | details | |
| Blood | 0.7 +/- 0.13 uM | Abnormal | Celiac Disease | Adult (>18 years old) | Both | details | |
| Blood | 0.06 +/- 0.04 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 44.0 +/- 29.1 uM | Abnormal | Extrahepatic biliary atresia (EHBA) | Children (1-13 years old) | Not Specified | details | |
| Blood | 8.4 +/- 8.7 uM | Abnormal | Cholecohal cyst | Children (1-13 years old) | Not Specified | details | |
| Blood | 91.8 +/- 54.9 uM | Abnormal | Intrahepatic biliary hypoplasia | Adult (>18 years old) | Not Specified | details | |
| Blood | 2.8 +/- 3.1 uM | Abnormal | Idiopathic neonatal hepatitis | Children (1-13 years old) | Not Specified | details | |
| Blood | 25.9 +/- 24.0 uM | Abnormal | Alpha-1-antitrypsin deficiency | Children (1-13 years old) | Not Specified | details | |
| Blood | 9.8 +/- 14.7 uM | Abnormal | Cystic fibrosis | Children (1-13 years old) | Not Specified | details | |
| Blood | 2.9 +/- 2.4 uM | Abnormal | Galactosemia | Children (1-13 years old) | Not Specified | details | |
| Blood | 14.5 +/- 16.1 uM | Abnormal | Chronic active hepatitis | Children (1-13 years old) | Not Specified | details | |
| Blood | 8.6 +/- 7.9 uM | Abnormal | Glycogen storage disease | Children (1-13 years old) | Not Specified | details | |
| Blood | 1.5 +/- 1.2 uM | Abnormal | Fulminant hepatic failure | Children (1-13 years old) | Not Specified | details | |
| Blood | 10.5 +/- 13.1 uM | Abnormal | Portal vein obstruction | Children (1-13 years old) | Not Specified | details | |
| Blood | 5.1 +/- 6.9 uM | Abnormal | Wilson's disease | Children (1-13 years old) | Not Specified | details | |
| Blood | 22 +/- 6 uM | Abnormal | GI disorder | Infant (0-1 year old) | Both | details | |
| Blood | 16 +/- 5 uM | Abnormal | GI disorder | Infant (0-1 year old) | Both | details | |
| Blood | 3.2 +/- 0.6 uM | Abnormal | GI disorder | Infant (0-1 year old) | Both | details | |
| Blood | 1.4 +/- 0.4 uM | Abnormal | GI disorder | Infant (0-1 year old) | Both | details | |
| Blood | 0.6(0.4-1.9) uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 14.8(5.2-25.3) uM | Abnormal | Severe acute malnutrition | Infant (0-1 year old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
D-Galactose (HMDB0000143 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.52 (0.12-1.25) uM | Abnormal | Hypergalactosemia with porto-hepatic venous shunts and haemangiomas | Infant (0-1 year old) | Both | details | |
| Blood | 2.72 (0.58-3.98) uM | Abnormal | Galactose-1-phosphate uridyltransferase deficiency (galactosemia) | Infant (0-1 year old) | Both | details | |
| Blood | 210.0 +/- 92.0 uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 88.3 +/- 34.7 uM | Normal | Normal | Adult (>18 years old) | Both |
| details |
| Blood | 39.0 +/- 12.0 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 1.0 (0.0-5.0) uM | Normal | Normal | Adolescent (13-18 years old) | Both | details | |
| Blood | 17 (0-39) uM | Normal | Normal | Children (1 - 13 years old) | Not Specified |
| details |
| Blood | 2.720 (0.580-3.980) uM | Abnormal | Galactosemia type 1 | Infant (0-1 year old) | Both | details | |
| Blood | <440 uM | Normal | Normal | Newborn (0-30 days old) | Not Available | details | |
| Blood | <110 uM | Normal | Normal | Infant (0-1 year old) | Not Available | details | |
| Blood | 440-1110 uM | Abnormal | Patent Ductus Venosus | Newborn (0-30 days old) | Not Available | details | |
| Blood | <110 uM | Abnormal | Patent Ductus Venosus | Infant (0-1 year old) | Not Available | details | |
| Blood | 330-440 uM | Abnormal | Patent Ductus Venosus | Children (1-13 years old) | Not Available | details |
Inosine (HMDB0000195 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.05 +/- 0.01 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.19 +/- 0.17 uM | Abnormal | Major trauma | Adult (>18 years old) | Both | details | |
| Blood | 5.0 +/- 0.8 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.68 +/- 0.47 uM | Abnormal | Canavan disease | Adult (>18 years old) | Both | details | |
| Blood | 1.6 +/- 0.4 uM | Abnormal | Kidney disease | Adult (>18 years old) | Both | details | |
| Blood | 0.20 +/- 0.07 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.3 +/- 0.1 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 30.0 uM | Abnormal | Purine nucleoside phosphorylase deficiency | Adult (>18 years old) | Both | details | |
| Blood | 1.0 +/- 0.5 uM | Abnormal | Solid tumors | Adult (>18 years old) | Both | details | |
| Blood | 0.19 +/- 0.17 uM uM | Abnormal | Septic shock | Adult (>18 years old) | Both | details | |
| Blood | 0.19 +/- 0.17 uM | Abnormal | Cardiogenic shock | Adult (>18 years old) | Both | details | |
| Blood | 0.5 uM | Abnormal | Xanthinuria type 1 | Children (1-13 years old) | Male | details | |
| Blood | 0.6 uM | Abnormal | Xanthinuria type 1 | Adult (>18 years old) | Female | details | |
| Blood | 0.9 +/- 0.2 uM | Normal | normal | Adult (>18 years old) | Male | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Indoleacetic acid (HMDB0000197 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.05 (0.0-0.118) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.05 (0.0- 0.1) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 13.70 +/- 12.56 uM | Abnormal | uremia | Adult (>18 years old) | Both | details | |
| Blood | 2.85 +/- 1.71 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.100 +/- 0.100 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 5 +/- 3.200 uM | Abnormal | Uremia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
L-Acetylcarnitine (HMDB0000201 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 6.2 +/- 0.6 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 5.7 +/- 0.7 uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | 4.90 (2.48-8.62) uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 0.316 (0.091-0.760) uM | Abnormal | Very long-chain acyl-CoA dehydrogenase deficiency (vLCAD) | Adult (>18 years old) | Both | details | |
| Blood | 5.48 +/- 2.15 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | 6.56 +/- 2.26 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 3.00-12.5 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 2.5022 (2.2864) uM | Abnormal | Pregnancy with fetus having congenital heart defect | Adult (>18 years old) | Female | details | |
| Blood | 10.28(3.49) uM | Abnormal | Heart failure with preserved ejection fraction | Adult (>18 years old) | Both | details | |
| Blood | 8.05(3.22) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 800 +/- 200 uM | Abnormal | 3-Methylcrotonyl-CoA Carboxylase Deficiency | Adult (>18 years old) | Both | details | |
| Blood | 3.00-12.5 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 6.26 (5.14-7.83) uM | Normal | Normal | Infant (0-1 year old) | Not Available | details | |
| Blood | 3.57 (2.91-4.48) uM | Normal | Normal | Newborn (0-30 days old) | Not Available | details | |
| Blood | 4.09 +/- 5.83 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 1.30 +/- 0.81 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 2.83 +/- 4.08 uM | Abnormal | Acetaminophen overdose | Children (1-13 years old) | Both | details | |
| Blood | 6.82 +/- 3.64 uM | Abnormal | Obesity | Children (1-13 years old) | Both |
| details |
| Blood | 6.79 +/- 2.28 uM | Abnormal | Obesity | Children (1-13 years old) | Both |
| details |
| Blood | 26.700 +/- 9.700 uM | Abnormal | short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency | Infant (0-1 year old) | Not Specified | details | |
| Blood | 27.740 +/- 9.800 uM | Abnormal | 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD) | Infant (0-1 year old) | Female | details | |
| Blood | 16.540 +/- 3.340 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 26.400 +/- 9.700 uM | Abnormal | Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency | Infant (0-1 year old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 11.9(10-40) uM | Abnormal | Sepsis | Adult (>18 years old) | Both | details |
Methylmalonic acid (HMDB0000202 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.200 (0.00-0.400) uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | 0.14 (0.04-0.26) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 22.0 (4.3-37.0) uM | Abnormal | Cobalamin deficiency | Adult (>18 years old) | Both | details | |
| Blood | 0.480 +/- 0.062 uM | Abnormal | Alzheimer's disease | Adult (>18 years old) | Both | details | |
| Blood | 0.187 +/- 0.084 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.17 (0.073-0.27) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 11.2 uM | Abnormal | Heart Transplant | Adult (>18 years old) | Both | details | |
| Blood | 2.8 uM | Abnormal | Malonyl-CoA decarboxylase deficiency | Adolescent (13-18 years old) | Female | details | |
| Blood | <0.34 uM | Normal | Normal | Adolescent (13-18 years old) | Female | details | |
| Blood | 0.466-188.842 uM | Abnormal | cobalamin deficiency | Adult (>18 years old) | Both | details | |
| Blood | 10-15.4 uM | Abnormal | Combined malonic and methylmalonic aciduria | Adult (>18 years old) | Both | details | |
| Blood | 1.3-4.1 uM | Abnormal | Methylmalonic aciduria mitochondrial encephelopathy Leigh-like | Children (1-13 years old) | Both | details | |
| Blood | 5-100 uM | Abnormal | Methylmalonic aciduria, cblA type | Infant (0-1 year old) | Both | details | |
| Blood | 5-100 uM | Abnormal | Methylmalonic aciduria, cblB type | Infant (0-1 year old) | Both | details | |
| Blood | 0.8-33 uM | Abnormal | Mitochondrial encephalomyopaththy with elevanted methylmalonic acid, SUCLA2 | Children (1-13 years old) | Both | details | |
| Blood | <0.28 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | <0.33 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | <0.4 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | <0.27 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Phenylacetic acid (HMDB0000209 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 3490.0 +/- 330.0 uM | Abnormal | Kidney disease | Adult (>18 years old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Consuming polyphenols described by Phenol-Explorer entry 956 | Not Available | Not Available | details | |
| Blood | Not Quantified | Normal | Consuming polyphenols described by Phenol-Explorer entry 956 | Not Available | Not Available | details | |
| Blood | Not Quantified | Normal | Consuming polyphenols described by Phenol-Explorer entry 956 | Not Available | Not Available | details | |
| Blood | Not Quantified | Normal | Consuming polyphenols described by Phenol-Explorer entry 956 | Not Available | Not Available | details | |
| Blood | Not Quantified | Normal | Normal | Not Available | Not Available |
| details |
| Blood | 47.24 +/- 5.866 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 58.864 +/- 3.78 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 50.34 +/- 4.973 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 53.443 +/- 6.56 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 48.507 +/- 3.763 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 49.663 +/- 3.885 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 51.556 +/- 6.132 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 80.36 +/- 24.113 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | Not Quantified | Abnormal | Leukemia | Adult (>18 years old) | Both | details | |
| Blood | 3485.92 +/- 329.79 uM | Abnormal | uremia | Adult (>18 years old) | Both | details | |
| Blood | <10.28 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
N-Acetylneuraminic acid (HMDB0000230 )
Thiamine (HMDB0000235 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.096 +/- 0.018 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | 0.035 +/- 0.006 uM | Abnormal | Hemodialysis | Elderly (>65 years old) | Both | details | |
| Blood | 0.18 +/- 0.066 uM | Abnormal | Friedreich's ataxia | Adult (>18 years old) | Both | details | |
| Blood | 0.17 +/- 0.051 uM | Abnormal | Olivopontocerebellar atrophy (OPCA) | Adult (>18 years old) | Both | details | |
| Blood | 0.34 (0.14-0.79) uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 0.16 (0.06-0.41) uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 0.12 (0.094-0.280) uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 0.050-0.120 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Protoporphyrin IX (HMDB0000241 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.66 +/- 0.18 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 0.53 +/- 0.13 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 1.09 +/- 0.57 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 0-1.244 uM | Abnormal | Protoporphyria, Erythropoietic | Adult (>18 years old) | Male | details |
Pyruvic acid (HMDB0000243 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 75.5 (10.0-141.0) uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | 64 (22-258) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 81.0 +/- 34.0 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 76.0 +/- 10.0 uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 63.0 +/- 25.0 uM | Normal | Normal | Adult (>18 years old) | Both |
| details |
| Blood | 64 (28-145) uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 64 (29-144) uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | 67 (27-164) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 64 (29-144) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 66 (34-117) uM | Normal | Normal | Elderly (>65 years old) | Both | details | |
| Blood | 93.5 (27.0-160.0) uM | Abnormal | 3-methylglutaconic aciduria type II, X-linked | Adult (>18 years old) | Both |
| details |
| Blood | 34.5 +/- 25.2 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 50.2 +/- 40 uM | Abnormal | Heart Transplant | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Colorectal cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | gastric cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 22.00-258.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 89.3 (27.0) uM | Abnormal | Early preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 71.3 (26.7) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 83.1 (45.8) uM | Abnormal | Late-onset preeclampsia | Adult (>18 years old) | Female | details | |
| Blood | 62.1 (24.1) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 77.9 (32.4) uM | Abnormal | Down syndrome pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 61.0 (26.4) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 74.66 +/- 35.11 uM | Abnormal | Pregnancy with fetuses with trisomy 18 | Adult (>18 years old) | Female | details | |
| Blood | 59.70 +/- 23.3 uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 63.92 (19.24) uM | Abnormal | Pregnancy with fetus having congenital heart defect | Adult (>18 years old) | Female | details | |
| Blood | 54.52 (25.5) uM | Abnormal | Pregnancy | Adult (>18 years old) | Female | details | |
| Blood | 313 +/- 31 uM | Abnormal | Glucagon deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 60-240 uM | Abnormal | 2-Ketoglutarate dehydrogenase complex deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 100 (50-190) uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 500 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 400-40200 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency | Newborn (0-30 days old) | Both | details | |
| Blood | 102-230 uM | Abnormal | 2-Ketoglutarate dehydrogenase complex deficiency | Children (1-13 years old) | Both | details | |
| Blood | 40-100 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 270 uM | Abnormal | 2-Ketoglutarate dehydrogenase complex deficiency | Newborn (0-30 days old) | Male | details | |
| Blood | 5-440 uM | Abnormal | 2-Ketoglutarate dehydrogenase complex deficiency | Children (1-13 years old) | Both | details | |
| Blood | 50-140 uM | Normal | Normal | Not Specified | Not Specified | details | |
| Blood | 60 uM | Abnormal | 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency | Children (1-13 years old) | Male | details | |
| Blood | 499.647 uM | Abnormal | Leigh Syndrome | Infant (0-1 year old) | Male | details | |
| Blood | 56.778 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 150 (120-170) uM | Abnormal | Myopathy with lactic acidosis, hereditary | Adult (>18 years old) | Both | details | |
| Blood | 500 uM | Abnormal | Fructose-1,6-bisphosphatase deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 1090 (650-1520) uM | Abnormal | Myopathy with lactic acidosis, hereditary | Adult (>18 years old) | Both | details | |
| Blood | 710 uM | Abnormal | Myopathy with lactic acidosis, hereditary | Adult (>18 years old) | Both | details | |
| Blood | 800-900 uM | Abnormal | Mitochondrial pyruvate carrier deficiency | Newborn (0-30 days old) | Female | details | |
| Blood | <150 uM | Normal | Normal | Newborn (0-30 days old) | Not Specified | details | |
| Blood | <200 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 670 +/- 990 uM | Abnormal | Pyruvate dehydrogenase deficiency (E1) | Children (1-13 years old) | Both | details | |
| Blood | 560 +/- 830 uM | Abnormal | Pyruvate dehydrogenase deficiency E1-alpha | Children (1-13 years old) | Both | details | |
| Blood | 400 uM | Abnormal | Pyruvate dehydrogenase phosphatase deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 160-320 uM | Abnormal | Dihydrolipoamide Dehydrogenase Deficiency | Infant (0-1 year old) | Male | details | |
| Blood | 440 uM | Abnormal | Lipoyltransferase 1 Deficiency | Children (1-13 years old) | Male | details | |
| Blood | <200 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 40-70 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 120(80-160) uM | Abnormal | GRACILE syndrome | Infant (0-1 year old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Riboflavin (HMDB0000244 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.015 +/- 0.018 uM | Abnormal | Anorexia nervosa | Adolescent (13-18 years old) | Female | details | |
| Blood | 0.845 (0.361-1.77) uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 0.385 (0.15-0.96) uM | Normal | Normal | Children (1-13 years old) | Both |
| details |
| Blood | 0.530 (0.265-1.30) uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 0.015 (0.0054-0.028) uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.10-0.50 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 0.00502 uM | Abnormal | Brown-Vialetto-Van Laere Syndrome 1 | Adolescent (13-18 years old) | Not Available | details | |
| Blood | 0.00797-0.0399 uM | Normal | Normal | Adolescent (13-18 years old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
Squalene (HMDB0000256 )
Thiosulfate (HMDB0000257 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 100.8 +/- 9.811 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 150.0 (110.0-230.0) uM | Abnormal | Hydrogen sulfide fatal poisoning | Adult (>18 years old) | Both | details | |
| Blood | 1.5 (0.0-3.0) uM | Normal | Normal | Adult (>18 years old) | Both | details |
Uric acid (HMDB0000289 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 400.0 +/- 103.2 uM | Abnormal | Diabetes | Adult (>18 years old) | Male | details | |
| Blood | 368.2 +/- 115.0 uM | Abnormal | Diabetes | Adult (>18 years old) | Female | details | |
| Blood | 377.6 +/- 82.6 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 426.0 +/- 107.4 uM | Abnormal | Impaired glucose tolerance | Adult (>18 years old) | Male | details | |
| Blood | 347.5 +/- 105.0 uM | Abnormal | Impaired glucose tolerance | Adult (>18 years old) | Female | details | |
| Blood | 372.0 (238.0-506.0) uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 298.0 (149.0-446.0) uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 329.0 +/- 129.0 uM | Normal | Normal | Newborn (0-30 days old) | Both |
| details |
| Blood | 302.0 +/- 60.0 uM | Normal | Normal | Adult (>18 years old) | Male |
| details |
| Blood | 234.0 +/- 52.0 uM | Normal | Normal | Adult (>18 years old) | Female |
| details |
| Blood | 256.8 +/- 7.0 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 271.95 +/- 43.13 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 1797.90 +/- 895.44 uM | Abnormal | Canavan disease | Adult (>18 years old) | Both | details | |
| Blood | 476.00 (357.00-714.00) uM | Abnormal | GOUT | Children (1-13 years old) | Both |
| details |
| Blood | 600-1000 uM | Abnormal | Lesch-Nyhan syndrome | Children (1-13 years old) | Both | details | |
| Blood | 193.89 +/- 49.05 uM | Abnormal | Multiple sclerosis | Adult (>18 years old) | Both | details | |
| Blood | 178.9 +/- 107.0 uM | Abnormal | Cryptococcus meningitis | Adult (>18 years old) | Both | details | |
| Blood | 612 +/- 36 uM | Abnormal | Cachexia | Adult (>18 years old) | Both | details | |
| Blood | 494.2 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 493.72 +/- 77.33 uM | Abnormal | uremia | Adult (>18 years old) | Both | details | |
| Blood | 240.91 +/- 82.68 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 166.56-755.46 uM | Normal | Normal | Newborn (0 - <14 days old) | Both |
| details |
| Blood | 95.18-374.76 uM | Normal | Normal | Infant (15 days - <1 year old) | Both |
| details |
| Blood | 107.073-291.48 uM | Normal | Normal | Children (1 - <12 years old) | Both |
| details |
| Blood | 154.66-350.96 uM | Normal | Normal | Adolescent (12 - <19 years old) | Female |
| details |
| Blood | 154.66-452.084 uM | Normal | Normal | Adolescent (12 - <19 years old) | Male |
| details |
| Blood | Not Quantified | Abnormal | gastric cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | superficial gastric cancer | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Abnormal | Schizophrenia | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 244 uM | Abnormal | Sulfite oxidase deficiency | Infant (0-1 year old) | Male |
| details |
| Blood | 165-394 uM | Normal | Normal | Infant (0-1 year old) | Both |
| details |
| Blood | 23.794 uM | Abnormal | Xanthinuria type 1 | Children (1-13 years old) | Male | details | |
| Blood | 35.691 uM | Abnormal | Xanthinuria type 1 | Adult (>18 years old) | Female | details | |
| Blood | 118.97 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 459 uM | Abnormal | Lesch-Nyhan syndrome | Adult (>18 years old) | Male | details | |
| Blood | 570 uM | Abnormal | Lesch-Nyhan syndrome | Children (1 - 13 years old) | Male | details | |
| Blood | <10 uM | Abnormal | Xanthinuria type 1 | Adult (>18 years old) | Male | details | |
| Blood | <327 uM | Normal | Normal | Children (1 - 13 years old) | Not Specified | details | |
| Blood | <420 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | <59.485 uM | Abnormal | Molybdenum cofactor deficiency | Newborn (0-30 days old) | Female | details | |
| Blood | 1-3 uM | Abnormal | Xanthinuria type 1 | Children (1-13 years old) | Both | details | |
| Blood | 148.712-190.351 uM | Abnormal | Sulfite oxidase deficiency | Infant (0-1 year old) | Both | details | |
| Blood | 200-420 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | 23.794-178.454 uM | Abnormal | Molybdenum cofactor deficiency | Infant (0-1 year old) | Both | details | |
| Blood | 231.991-243.887 uM | Abnormal | Primary Hypomagnesemia | Adult (>18 years old) | Male | details | |
| Blood | 279.578 +/- 23.794 uM | Normal | normal | Adult (>18 years old) | Male | details | |
| Blood | 303 +/- 59 uM | Normal | Normal | Adult (>18 years old) | Male | details | |
| Blood | 59.485-208.197 uM | Normal | Normal | Newborn (0-30 days old) | Both | details | |
| Blood | 643 +/- 274 uM | Abnormal | Lesch-Nyhan syndrome | Adult (>18 years old) | Male | details | |
| Blood | 120-400 uM | Normal | Normal | Children (1 - 13 years old) | Not Specified |
| details |
| Blood | 713.817 uM | Abnormal | Fructose-1,6-bisphosphatase deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 505.620-678.126 uM | Abnormal | Phosphoribosylpyrophosphate Synthetase Superactivity | Infant (0-1 year old) | Male | details | |
| Blood | 565.105-690.0232 uM | Abnormal | Phosphoribosylpyrophosphate Synthetase Superactivity | Children (1-13 years old) | Male | details | |
| Blood | 95.176 uM | Abnormal | Fanconi syndrome | Adult (>18 years old) | Female | details | |
| Blood | 291.475 +/- 59.485 uM | Normal | Normal | Adult (>18 years old) | Not Specified | details | |
| Blood | 553.208 uM | Abnormal | Phosphoribosylpyrophosphate Synthetase Superactivity | Adult (>18 years old) | Female | details | |
| Blood | 170-270 uM | Abnormal | Cerebral creatine deficiency syndrome 2 | Adult (>18 years old) | Female | details | |
| Blood | 350-770 uM | Abnormal | D-Lactic Acidosis | Children (1-13 years old) | Male | details | |
| Blood | 140-410 uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | <350 uM | Normal | Normal | Children (1-13 years old) | Not Specified | details | |
| Blood | 420 uM | Abnormal | Long-chain Fatty Acids, Defect in Transport of | Infant (0-1 year old) | Female | details | |
| Blood | 0.000420-0.000440 uM | Abnormal | congenital disorder of glycosylation CDG-Ia | Infant (0-1 year old) | Both | details | |
| Blood | 23 uM | Abnormal | Molybdenium co-factor deficiency | Infant (0-1 year old) | Female | details | |
| Blood | 150-450 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 210-430 uM | Normal | Normal | Adolescent (13-18 years old) | Male | details | |
| Blood | 150-360 uM | Normal | Normal | Adult (>18 years old) | Female | details | |
| Blood | 120-330 uM | Normal | Normal | Children (1-13 years old) | Both | details | |
| Blood | 120-330 uM | Normal | Normal | Infant (0-1 year old) | Both | details | |
| Blood | 95.176 uM | Abnormal | Fanconi Bickel syndrome | Children (1-13 years old) | Female |
| details |
| Blood | <400 uM | Normal | Normal | Children (3 months - 6 years old) | Not Specified | details | |
| Blood | 496.429 +/- 264.881 uM | Abnormal | Uremia | Children (3 months - 6 years old) | Not Specified | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |
3,4-Dihydroxyphenylglycol (HMDB0000318 )
| Biospecimen | Concentration | Patient Status | Conditions | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|---|
| Blood | 0.002 +/- 0.001 uM | Abnormal | Menkes syndrome | Infant (0-1 year old) | Not Specified | details | |
| Blood | 0.008 +/- 0.005 uM | Normal | Normal | Infant (0-1 year old) | Not Specified | details | |
| Blood | 0.004 +/- 0.002 uM | Abnormal | Menkes syndrome | Newborn (0-30 days old) | Both | details | |
| Blood | 0.009 +/- 0.003 uM | Normal | Normal | Newborn (0-30 days old) | Both | details | |
| Blood | 0.006 +/- 0.0016 uM | Normal | Normal | Adult (>18 years old) | Both | details | |
| Blood | Not Quantified | Normal | Normal | Adult (>18 years old) | Both | details |