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Metabolic pathway involved in cerebrotendinous xanthomatosis (CTX; modified from Chales and Bjorkhem [ 10 , 74 ] ). Due to a mutation in the CYP27A1 gene, cholesterol cannot be converted into bile acids, but is instead converted into cholestanol and bile alcohol. Providing chenodeoxycholic acid exogenously has a negative feedback effect that reduces synthesis of bile acid, thus preventing accumulation of cholestanol.
