Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency sterol 27-hydroxylase. This defect results the accumulation of cholestanol and bile alcohols various tissues, including brain, tendons peripheral nerves. We conducted this review evaluate lipid profile abnormalities patients with CTX. A search was PubMed, Emb...
