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) | 2.8 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Malonic acid (HMDB0000691) | 40 uM | Abnormal | Adolescent (13-18 years old) | Female | details | |
| Malonylcarnitine (HMDB0002095) | 2.7 (1.6 - 3.8) uM | Abnormal | Newborn (0-30 days old) | Not Specified | details | |
| Malonylcarnitine (HMDB0002095) | 0.2 (0.13 - 0.3) uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
Fumarase deficiency (606812 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Ammonia (HMDB0000051) | 139 - 299 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| L-Tyrosine (HMDB0000158) | 257 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| L-Threonine (HMDB0000167) | 313 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| L-Asparagine (HMDB0000168) | 99 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Histidine (HMDB0000177) | 130 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Lysine (HMDB0000182) | 107 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Serine (HMDB0000187) | 263 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Ornithine (HMDB0000214) | 77 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Glutamine (HMDB0000641) | 430 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Leucine (HMDB0000687) | 66 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Methionine (HMDB0000696) | 70 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Citrulline (HMDB0000904) | 181 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) | 1.8 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Glutaric acid (HMDB0000661) | 12 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) | 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 |