Browsing Urine Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 129 - 132 of 277 in total
Purine nucleoside phosphorylase deficiency (164050 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Deoxyinosine (HMDB0000071) | 3.2 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details | |
| Deoxyguanosine (HMDB0000085) | 177.0-322.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details | |
| Guanosine (HMDB0000133) | 35.0 - 2588.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details | |
| Guanosine (HMDB0000133) | 35-588 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details | |
| Inosine (HMDB0000195) | 14000.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Pyruvate carboxylase deficiency (266150 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | >75000 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Available | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 45000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 8359 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Available | details | |
| Lactic acid (HMDB0000190) | 59000 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
Pyruvate dehydrogenase deficiency (312170 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 2-Hydroxybutyric acid (HMDB0000008) | >25.0 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
Fanconi syndrome
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glyceraldehyde (HMDB0001051) | 6407.7 +/- 6030.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details | |
| Hydrogen carbonate (HMDB0000595) | 0 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |