Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 133 - 136 of 172 in total
Nonketotic Hyperglycinemia
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
| Metabolite | Concentration in CSF | 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-Phosphoglycerate dehydrogenase deficiency (601815 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|
Adenosine kinase deficiency (614300 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Adenosine (HMDB0000050) | 7.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details | |
| Adenosine (HMDB0000050) | 9.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Xanthine (HMDB0000292) | 4.9 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Xanthine (HMDB0000292) | 6.8 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Male | details |