Browsing Urine Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
11-beta-Hydroxylase deficiency (202010 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Tetrahydrodeoxycortisol (HMDB0005972) | 0.713-1.580 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details | |
| Tetrahydrodeoxycortisol (HMDB0005972) | 0.360-0.960 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details | |
| Pregnanetriol (HMDB0006070) | 0.02 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Female | details | |
| Pregnanetriol (HMDB0006070) | 0.0267-0.0733 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Congenital Adrenal Hyperplasia, due to 21-Hydroxylase-Deficiency (201910 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 16-a-Hydroxypregnenolone (HMDB0000315) | Not Quantified | Abnormal | Newborn (0-30 days old) | Not Available | details |
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Oxoglutaric acid (HMDB0000208) | 101.0 (50.0-152.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
| Oxoglutaric acid (HMDB0000208) | 875.0 (150.0-1600.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| Fumaric acid (HMDB0000134) | 17-124 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details | |
| Malic acid (HMDB0000156) | 7-194 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details | |
| Oxoglutaric acid (HMDB0000208) | 30-1600 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details | |
| Succinic acid (HMDB0000254) | 75-185 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450 )
| Metabolite | Concentration in Urine | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovaleric acid (HMDB0000754) | 2030.0 (60.0-4000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| 3-Methylcrotonylglycine (HMDB0000459) | 225.0 (0.00-450.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| 3-Methylglutaconic acid (HMDB0000522) | 5070.0 (140.0-10000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| Methylglutaric acid (HMDB0000752) | 507.0 (14.0-1000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| Adipic acid (HMDB0000448) | 31.0 (12.0-50.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both |
| details |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | 481 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Methylglutaconic acid (HMDB0000522) | 3714 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| Methylglutaric acid (HMDB0000752) | 622 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 851 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | 1028.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Methylcrotonylglycine (HMDB0000459) | 27.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Methylglutaconic acid (HMDB0000522) | 4166.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| Glutaric acid (HMDB0000661) | 1274.9 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| Methylglutaric acid (HMDB0000752) | 348 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 1154.8 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | 1028.4 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Methylcrotonylglycine (HMDB0000459) | 27.6 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| Glutaric acid (HMDB0000661) | 1274.9 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| Methylglutaric acid (HMDB0000752) | 348 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 1154.8 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxymethylglutaric acid (HMDB0000355) | 481 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| Adipic acid (HMDB0000448) | 17.15 (0.00-34.30) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
| Senecioic acid (HMDB0000509) | Not Quantified | Abnormal | Not Specified | Not Specified | details | |
| 3-Methylglutaconic acid (HMDB0000522) | 4.5 (0.00-9.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
| 3-Methylglutaconic acid (HMDB0000522) | 3714 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| Methylglutaric acid (HMDB0000752) | 3.5 (0.0-7.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
| Methylglutaric acid (HMDB0000752) | 622 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 23.0 (0.0-46.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both |
| details |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 851 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Methylbut-3-enoic acid (HMDB0170858) | Not Quantified | Abnormal | Not Specified | Not Specified | details |