Browsing Urine Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 181 - 184 of 277 in total
D, L-2-hydroxyglutaric aciduria (615182 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 2-Hydroxyglutarate (HMDB0059655) | 373 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details | |
| D-2-Hydroxyglutaric acid (HMDB0000606) | 228 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details | |
| L-2-Hydroxyglutaric acid (HMDB0000694) | 145 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details | |
| D-2-Hydroxyglutaric acid (HMDB0000606) | 496(228-750) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details | |
| L-2-Hydroxyglutaric acid (HMDB0000694) | 161(64-247) umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Both | details | |
| L-2-Hydroxyglutaric acid (HMDB0000694) | 32 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
Spondyloenchondrodysplasia (271550 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| D-2-Hydroxyglutaric acid (HMDB0000606) | Not Quantified | Abnormal | Children (1-13 years old) | Female | details |
ATIC deficiency (608688 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| SAICAR (HMDB0000797) | Not Quantified | Abnormal | Children (1-13 years old) | Female | details | |
| AICA-riboside (HMDB0062179) | Not Quantified | Abnormal | Infant (0-1 year old) | Female |
| details |
Multiple carboxylase deficiency
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | 18.67 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details | |
| 3-Hydroxyisovalerylcarnitine (HMDB0061189) | 80.88 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |