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 |
|---|---|---|---|---|---|---|
| Lactic acid (HMDB0000190) | 1430-11520 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Pyruvic acid (HMDB0000243) | 60-240 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Citric acid (HMDB0000094) | 71-107 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Lactic acid (HMDB0000190) | 1000-3580 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Oxoglutaric acid (HMDB0000208) | 17-37 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 102-230 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Acetoacetic acid (HMDB0000060) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Acetoacetic acid (HMDB0000060) | 50-1280 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Lactic acid (HMDB0000190) | 7700 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Lactic acid (HMDB0000190) | 1400-7800 uM | Abnormal | Children (1-13 years old) | Both | details | |
| Pyruvic acid (HMDB0000243) | 270 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Pyruvic acid (HMDB0000243) | 5-440 uM | Abnormal | Children (1-13 years old) | Both | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 100 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| 3-Hydroxybutyric acid (HMDB0000011) | 120-2000 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Hydrogen carbonate (HMDB0000595) | 15000 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Hydrogen carbonate (HMDB0000595) | 11000-21000 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) | 10.0 (10.0 - 20.0) uM | Abnormal | Adult (>18 years old) | Both | details | |
| 3-Hydroxyisovaleric acid (HMDB0000754) | 20 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) | 175-252 uM | Abnormal | Adolescent (13-18 years old) | Both | details | |
| Serine (HMDB0000187) | 56-63 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
Succinic semialdehyde dehydrogenase deficiency (271980 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 4-Hydroxybutyric acid (HMDB0000710) | 2110-2920 uM | Abnormal | Infant (0-1 year old) | Male | details |