Browsing Serum Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 449 - 452 of 479 in total
Methylmalonate semialdehyde dehydrogenase deficiency (614105 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Aminoisobutanoic acid (HMDB0003911) | 30 +/- 6 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| beta-Alanine (HMDB0000056) | 6 uM | Abnormal | Children (1-13 years old) | Male | details |
Myopathic carnitine deficiency (212160 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| L-Carnitine (HMDB0000062) | 20.6-33.8 uM | Abnormal | Adult (>18 years old) | Female | details |
Cerebral creatine deficiency syndrome 1 (300352 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | 75 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Guanidoacetic acid (HMDB0000128) | 1.1 uM | Abnormal | Children (1-13 years old) | Male | details |
Cerebral creatine deficiency syndrome 3 (612718 )
| Metabolite | Concentration in Serum | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | 1 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Guanidoacetic acid (HMDB0000128) | 0.2-0.3 uM | Abnormal | Children (1-13 years old) | Female | details |