Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 157 - 160 of 172 in total
Hereditary folate malabsorption (229050 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Folic acid (HMDB0000121) | 0.00612 uM | Abnormal | Children (1-13 years old) | Male | details |
Hyperekplexia (149400 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| gamma-Aminobutyric acid (HMDB0000112) | 0.011 uM | Abnormal | Newborn (0-30 days old) | Female | details |
Urocanase deficiency (276880 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Homovanillic acid (HMDB0000118) | 0.09 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details | |
| Biopterin (HMDB0000468) | 0.01 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details | |
| Neopterin (HMDB0000845) | 0.009 uM | Abnormal | Adolescent (13-18 years old) | Not Available | details |
Epilepsy, early-onset, vitamin B6-dependent (617290 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pyridoxine (HMDB0000239) | 0.00005-0.00008 uM | Abnormal | Children (1-13 years old) | Female | details | |
| 3-Methoxytyrosine (HMDB0001434) | 0.508-0.586 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Glycine (HMDB0000123) | 48.6 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Glycine (HMDB0000123) | 11 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| L-Alanine (HMDB0000161) | 48.6 uM | Abnormal | Children (1-13 years old) | Female | details | |
| L-Alanine (HMDB0000161) | 48.6 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Leucine (HMDB0000687) | 26.7 uM | Abnormal | Newborn (0-30 days old) | Female | details | |
| Pyridoxamine (HMDB0001431) | 0.000100-0.000200 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Pyridoxal 5'-phosphate (HMDB0001491) | 0.00500-0.00600 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Pyridoxal (HMDB0001545) | 0.015 uM | Abnormal | Children (1-13 years old) | Female | details | |
| Leucine (HMDB0000687) | 8.2 uM | Abnormal | Children (1-13 years old) | Female | details |