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 |
|---|---|---|---|---|---|---|
| Neopterin (HMDB0000845) | 22.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details | |
| Biopterin (HMDB0000468) | 0.62 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details |
Sengers syndrome (212350 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Methylglutaconic acid (HMDB0000522) | 20-488 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Cystinylglycinuria (179780 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Cysteine (HMDB0000574) | 81-106 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Male | details | |
| L-Cysteinylglycine disulfide (HMDB0000709) | 49-72 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Male | details |
Pyridoxine-dependent epilepsy (266100 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Allysine (HMDB0001263) | 1.6-28 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |