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

Abstract

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.

• Authors: B J Koopman, J C Van der Molen, B G Wolthers, R J Waterreus
• Journal: Clinical chemistry (Clin Chem) Vol. 33 Issue 1 Pg. 142-3 (Jan 1987) ISSN: 0009-9147 [Print] England
• PMID: 3542288 (Publication Type: Journal Article)

Chemical References

• Bile Acids and Salts
• Cholestanols
• Hydroxysteroids

Topics

• Bile Acids and Salts (urine)
• Brain Diseases (diagnosis)
• Cholestanols (urine)
• Chromatography, Gas
• Clinical Enzyme Tests
• Colorimetry
• Diagnosis, Differential
• Hepatorenal Syndrome (diagnosis)
• Humans
• Hydroxysteroids (urine)
• Liver Diseases (diagnosis)
• Liver Transplantation
• Xanthomatosis (diagnosis, urine)