Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Glucose transporter type 1 deficiency syndrome (606777 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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Beta-ureidopropionase deficiency (613161 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|
Canavan disease (271900 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pseudouridine (HMDB0000767) | 16.70 +/- 3.72 uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-Acetyl-L-aspartic acid (HMDB0000812) | 16.96 +/- 19.57 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Orotic acid (HMDB0000226) | 0.94 +/- 0.78 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Glutathione (HMDB0000125) | 30.22 +/- 2.55 uM | Abnormal | Children (1-13 years old) | Not Specified | details | |
| Oxidized glutathione (HMDB0003337) | 1.98 +/- 0.41 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Uracil (HMDB0000300) | 2.25 +/- 0.98 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Inosine (HMDB0000195) | 0.68 +/- 0.47 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Ascorbic acid (HMDB0000044) | 82.57 +/- 36.71 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Uridine (HMDB0000296) | 4.23 +/- 1.92 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Hypoxanthine (HMDB0000157) | 5.56 +/- 1.74 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Thymidine (HMDB0000273) | 0.31 +/- 0.09 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Cytidine (HMDB0000089) | 0.26 +/- 0.13 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Creatinine (HMDB0000562) | 35.23 +/- 5.28 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Xanthine (HMDB0000292) | 6.37 +/- 1.95 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Uric acid (HMDB0000289) | 1797.90 +/- 895.44 uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-Acetyl-L-aspartic acid (HMDB0000812) | 920-1370 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Spina Bifida (182940 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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