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In cerebrotendinous xanthomatosis (CTX), a genetic recessive disease with a defect in bile acid synthesis, chenodeoxycholic acid (CDCA) supplementation is a widely used treatment that has been shown to achieve normalization of some typical biochemical abnormalities observed in CTX patients, such as high plasma cholestanol concentration, and may lead to clinical improvement or stabilization. Cholic acid (CA), the other main bile acid produced by the human liver, although less documented than CDCA, seems also to be efficient in CTX, and could be considered as a possible therapeutic option in case of disabling adverse events due to CDCA.

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Cholic Acid Treatment in Adults with Cerebrotendinous Xanthomatosis (CTX)

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  • 发表日期：

    2025年

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  • Yann Nadjar

摘要

In cerebrotendinous xanthomatosis (CTX), a genetic recessive disease with a defect in bile acid synthesis, chenodeoxycholic acid (CDCA) supplementation is a widely used treatment that has been shown to achieve normalization of some typical biochemical abnormalities observed in CTX patients, such as high plasma cholestanol concentration, and may lead to clinical improvement or stabilization. Cholic acid (CA), the other main bile acid produced by the human liver, although less documented than CDCA, seems also to be efficient in CTX, and could be considered as a possible therapeutic option in case of disabling adverse events due to CDCA.