Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 125 - 128 of 172 in total
Malonyl-Coa decarboxylase deficiency (248360 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Methylmalonic acid (HMDB0000202) | 13 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Malonic acid (HMDB0000691) | 180 uM | Abnormal | Adolescent (13-18 years old) | Female | details |
Fumarase deficiency (606812 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pyruvic acid (HMDB0000243) | 253 - 345 uM | Abnormal | Infant (0-1 year old) | Male | details |
Glutaric aciduria I
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyglutaric acid (HMDB0000428) | 2.2 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Glutaric acid (HMDB0000661) | 43 uM | Abnormal | Newborn (0-30 days old) | Male | 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 |