Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Neu-Laxova Syndrome 1 (256520 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 6 uM | Abnormal | Newborn (0-30 days old) | Male | details | |
| Serine (HMDB0000187) | 3 uM | Abnormal | Newborn (0-30 days old) | Male | details |
Phosphoserine Aminotransferase Deficiency (610992 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | <1 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Glycine (HMDB0000123) | <1 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Serine (HMDB0000187) | 18 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Serine (HMDB0000187) | 5 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Phosphoserine Phosphatase Deficiency (614023 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Glycine (HMDB0000123) | 2.8 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Glycine (HMDB0000123) | 3 uM | Abnormal | Children (1-13 years old) | Male | details | |
| Serine (HMDB0000187) | 6 uM | Abnormal | Infant (0-1 year old) | Male | details | |
| Serine (HMDB0000187) | 8 uM | Abnormal | Children (1-13 years old) | Male | details |
Pelizaeus Merzbacher Disease (312080 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| N-Acetylaspartylglutamic acid (HMDB0001067) | 43 (0.0-203.58) uM | Abnormal | Children (1-13 years old) | Not Specified | details |