Browsing Urine Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Pterin-4a carbinolamine dehydratase deficiency (264070 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Phenylalanine (HMDB0000159) | 39.954 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Sengers syndrome (212350 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 3500-14000 uM | Abnormal | Children (1-13 years old) | Both | details |
Cystinylglycinuria (179780 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Cysteinylglycine disulfide (HMDB0000709) | 30 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Pyridoxine-dependent epilepsy (266100 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pipecolic acid (HMDB0000070) | 2.8-23 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |