What is the prevalence of cerebrotendinous xanthomatosis (CTX) in white populations?

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

More than 300 patients have been diagnosed worldwide, with an estimated prevalence of 1 case per 50,000 individuals in white populations. [10, 16] Genetic islands of increased CYP27A1 mutation frequency exist; for example, there is an estimated disease prevalence of 1:440 for the Druze population in Israel. [17]


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