Chapter 26 – Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders
Abstract 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)…