Browsing Urine Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic (261680 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Orotic acid (HMDB0000226) | 5.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details |
Molybdenium co-factor deficiency (252150 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Sulfite (HMDB0000240) | 500 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details | |
| Xanthine (HMDB0000292) | 48 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details | |
| Xanthine (HMDB0000292) | 259 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details | |
| Uracil (HMDB0000300) | 48 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details | |
| Uric acid (HMDB0000289) | 29 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
Urocanase deficiency (276880 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Urocanic acid (HMDB0000301) | 158-202 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Not Specified | details |
6-Pyruvoyltetrahydropterin synthase deficiency (261640 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Biopterin (HMDB0000468) | 0.19-0.63 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |