Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 49 - 52 of 172 in total
Smith-Lemli-Opitz syndrome (270400 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 8-Dehydrocholesterol (HMDB0002027) | 312.0 +/- 52.0 uM | Abnormal | Adult (>18 years old) | Both | details | |
| 25-Hydroxyvitamin D2 (HMDB0001438) | 0.0037 +/- 0.0016 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Mevalonic acid (HMDB0000227) | 0.012 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Both | details | |
| 7-Dehydrocholesterol (HMDB0000032) | 369.0 (46.0 - 1220.0) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Cholesterol (HMDB0000067) | 400 uM | Abnormal | Infant (0-1 year old) | Both | details |
Cortical myoclonus
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|
Aromatic L-amino acid decarboxylase deficiency (608643 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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Hyperargininemia (207800 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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