Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 57 - 60 of 172 in total
Fumarase deficiency (606812 )
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Pyruvic acid (HMDB0000243) | 253 - 345 uM | Abnormal | Infant (0-1 year old) | Male | details |
Functional hypothalamic amenorrhea
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| Cortisol (HMDB0000063) | 0.0001+/- 0.00001 uM | Abnormal | Adult (>18 years old) | Female | details |
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 |
Glutaryl-CoA dehydrogenase deficiency (GDHD)
| Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
|---|---|---|---|---|---|---|
| 3-Hydroxyglutaric acid (HMDB0000428) | 4450 uM | Abnormal | Not Available | Not Specified | details | |
| Glutaric acid (HMDB0000661) | 39.74 uM | Abnormal | Not Available | Not Specified | details |