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 |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 368(83-1927) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |
2-Ketoglutarate dehydrogenase complex deficiency (203740 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Citric acid (HMDB0000094) | 149.400-152.400 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Lactic acid (HMDB0000190) | 1930-2500 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Oxoglutaric acid (HMDB0000208) | 3.600-12.800 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 176.900-191.400 uM | Abnormal | Children (1-13 years old) | Both | details |
3-Phosphoglycerate dehydrogenase deficiency (601815 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 5 uM | Abnormal | Adolescent (13-18 years old) | Male | details | |
| Serine (HMDB0000187) | 9 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
Adenosine kinase deficiency (614300 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| S-Adenosylhomocysteine (HMDB0000939) | 0.068 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| S-Adenosylhomocysteine (HMDB0000939) | 0.102 uM | Abnormal | Adult (>18 years old) | Male | details | |
| S-Adenosylmethionine (HMDB0001185) | 0.264 uM | Abnormal | Adult (>18 years old) | Male | details | |
| S-Adenosylmethionine (HMDB0001185) | 0.291 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Methionine (HMDB0000696) | 41 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Methionine (HMDB0000696) | 44 uM | Abnormal | Adult (>18 years old) | Male | details |