Browsing CSF Metabolite Diseases and Conditions
Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 137 - 140 of 172 in total
3-Methylglutaconic Aciduria type IX (617698 )
Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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Pyridoxine-dependent epilepsy (266100 )
Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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Allysine (HMDB0001263) | 1.6-28 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Hereditary folate malabsorption (229050 )
Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
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Carnitine transporter defect; primary systemic carnitine deficiency (212140 )
Metabolite | Concentration in CSF | Patient Status | Age | Sex | Reference | Details |
---|---|---|---|---|---|---|
L-Carnitine (HMDB0000062) | 1.517 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |