What is the role of bile analysis in the workup of cerebrotendinous xanthomatosis (CTX)?

Updated: Jun 20, 2019
  • Author: Robert D Steiner, MD; Chief Editor: Maria Descartes, MD  more...
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Answer

A large amount of cholestanol is present in the bile of affected individuals (4-11% vs < 1% in controls). [58, 59] As expected, a low concentration of chenodeoxycholic acid (CDCA) is observed along with high concentrations of bile alcohols (conjugated with glucuronic acid).


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