What is the role of urine testing 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

Urine testing of bile alcohols (typically pentols) using fast ion bombardment–mass spectroscopy has been performed after a positive serum cholestanol result. [55, 56] Current studies are exploring the use of tandem mass spectrometry as an efficient and affordable way to screen infants; however, no newborn screening has been implemented. [53, 57]


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