Clinical Chemistry
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Clinical Chemistry 33: 142-143, 1987;
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Clinical Chemistry, Vol 33, 142-143, Copyright © 1987 by American Association for Clinical Chemistry

Screening for cerebrotendinous xanthomatosis by using an enzymatic assay for 7 alpha-hydroxylated steroids in urine

BJ Koopman, JC Van der Molen, BG Wolthers and RJ Waterreus

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.




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Copyright © 1987 by the American Association for Clinical Chemistry.