Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to <i>CYP27A1</i> Gene Mutation with Chenodeoxycholic Acid Therapy

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to <i>CYP27A1</i> Gene Mutation with Chenodeoxycholic Acid Therapy

Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene. The dysregulation of cholesterol metabolism results in the accumulation of metabolites such as cholestanol, which has a predilection for neuronal...

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Bibliographic Details
Main Authors: Petar Brlek, Luka Bulić, David Glavaš Weinberger, Jelena Bošnjak, Tomislav Pavlović, Svetlana Tomić, Zdravka Krivdić Dupan, Igor Borić, Dragan Primorac
Format: Article
Language:English
Published: MDPI AG 2023-05-01
Series:Biomedicines
Subjects:
ataxia
cerebrotendinous xanthomatosis
chenodeoxycholic acid
cholestanol
xanthoma
next-generation sequencing
Online Access:https://www.mdpi.com/2227-9059/11/5/1430

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https://www.mdpi.com/2227-9059/11/5/1430

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