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 |
|---|---|---|---|---|---|---|
| Acetoacetic acid (HMDB0000060) | 248 +/- 179 uM | Abnormal | Children (1-13 years old) | Not Specified | details | |
| D-Glucose (HMDB0000122) | 1837.260 +/- 271.980 uM | Abnormal | Children (1-13 years old) | Both | details | |
| D-Glucose (HMDB0000122) | 1900 uM | Abnormal | Children (1-13 years old) | Female | details | |
| alpha-D-Glucose (HMDB0003345) | 1900 uM | Abnormal | Children (1-13 years old) | Female | details | |
| alpha-D-Glucose (HMDB0003345) | 1837.260 +/- 271.980 uM | Abnormal | Children (1-13 years old) | Both | details |
Beta-ureidopropionase deficiency (613161 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Dihydrothymine (HMDB0000079) | 4.0 - 5.2 uM | Abnormal | Adult (>18 years old) | Not Specified | details | |
| Ureidoisobutyric acid (HMDB0002031) | 1.4 - 5.9 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Thymine (HMDB0000262) | 0.04 - 0.2 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
Canavan disease (271900 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Citric acid (HMDB0000094) | 2400.0 uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-Acetyl-L-aspartic acid (HMDB0000812) | 380.0 (0.0-760.0) uM | Abnormal | Adult (>18 years old) | Both | details | |
| Succinic acid (HMDB0000254) | 19.0 (0.0-38.0) uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-Acetylaspartylglutamic acid (HMDB0001067) | 18.7 (0.0-37.4) uM | Abnormal | Adult (>18 years old) | Both | details | |
| N-Acetylaspartylglutamic acid (HMDB0001067) | 16.37(3.55-37.30) uM | Abnormal | Children (1-13 years old) | Not Specified | details |
Spina Bifida (182940 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Choline (HMDB0000097) | 170.0 +/- 70.0 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Choline (HMDB0000097) | 140.0 +/- 180.0 uM | Abnormal | Adult (>18 years old) | Both | details | |
| Substance P (HMDB0001897) | 0.000864 +/- 0.0003576 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details | |
| Substance P (HMDB0001897) | 0.15 uM | Abnormal | Not Specified | Not Specified | details |