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Bile acids are synthesized via the classic pathway initiated by cholesterol 7-alpha-hydroxylase (CYP7A1) or via alternate pathways, one of which is initiated by sterol 27-hydroxylase (CYP27). Cerebrotendinous xanthomatosis (CTX) is due to bi-allelic mutations in the CYP27A1 gene, which encodes the mitochondrial cytochrome P-450 enzyme sterol 27-hydroxylase. Deficiency in this enzyme interferes with sterol intermediates in the alternative bile acid pathway.