Screening for cerebrotendinous xanthomatosis by using an enzymatic assay for 7 alpha-hydroxylated steroids in urine.
We used a commercial enzymatic kit for measuring 7 alpha-hydroxylated bile acids to screen urines from normal subjects, liver-transplant recipients, and patients with various liver diseases, cerebro-hepato-renal syndrome, or cerebrotendinous xanthomatosis (CTX). Because of their high concentrations of 7 alpha-hydroxylated compounds excreted, the CTX patients were clearly distinguished from all other groups except for a slight overlap with the patients with cerebro-hepato-renal syndrome and liver-transplant recipients. Gas chromatography for bile alcohols completed the differential diagnosis.
D001647:Bile Acids and Salts / Q000652:urine; D001927:Brain Diseases / Q000175:diagnosis; D002777:Cholestanols / Q000652:urine; D002849:Chromatography, Gas; D004796:Clinical Enzyme Tests; D003124:Colorimetry; D003937:Diagnosis, Differential; D006530:Hepatorenal Syndrome / Q000175:diagnosis; D006801:Humans; D006914:Hydroxysteroids / Q000652:urine*; D008107:Liver Diseases / Q000175:diagnosis; D016031:Liver Transplantation; D014973:Xanthomatosis / Q000175:diagnosis* / Q000652:urine
D001647:Bile Acids and Salts; D002777:Cholestanols; D006914:Hydroxysteroids