Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
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-Methylglutaconic aciduria type I (250950 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyisovaleric acid (HMDB0000754) | 172 uM | Abnormal | Adult (>18 years old) | Female | details | |
| 3-Methylglutaconic acid (HMDB0000522) | 125 uM | Abnormal | Adult (>18 years old) | Female | 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 |
Succinic semialdehyde dehydrogenase deficiency (271980 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 4-Hydroxybutyric acid (HMDB0000710) | 17 - 594 uM | Abnormal | Children (1-13 years old) | Not Specified | details | |
| 4-Hydroxybutyric acid (HMDB0000710) | 1760-2200 uM | Abnormal | Infant (0-1 year old) | Male | details |