![]() This autosomal recessive disease is caused by pathogenic variants in CYP27A1, which codes sterol 27-hydroxylase, an enzyme of the cytochrome P450 oxidase system with an important role in cholesterol metabolism and bile acid synthesis. ![]() Dyslipidemia and abnormal cholesterol metabolism may also contribute to the increased risk of atherosclerosis and cardiovascular complications observed in some CTX patients.Ĭerebrotendinous xanthomatosis (CTX) is a rare lipid storage disorder related to bile acid synthesis pathways. ![]() Cholestanol deposition in tissues contributes to clinical manifestations, including neurological symptoms and tendon xanthomas. Lipid abnormalities in CTX have clinical implications. A decrease in chenodeoxycholic acid (CDCA) leads to increased synthesis of cholesterol metabolites, such as bile alcohols 23S-pentol and 25-tetrol 3-glucuronide, which may serve as surrogate follow-up markers in patients with CTX. Most patients presented normal or low serum cholesterol levels. Elevated levels of cholestanol were consistently observed. A search was conducted in PubMed, Embase and the Virtual Health Library in January 2023 to evaluate studies reporting the lipid profiles of CTX patients, including the levels of cholestanol, cholesterol and other lipids. We conducted this review to evaluate lipid profile abnormalities in patients with CTX. This defect results in the accumulation of cholestanol and bile alcohols in various tissues, including the brain, tendons and peripheral nerves. ![]() Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder caused by pathogenic variants in CYP27A1, leading to a deficiency in sterol 27-hydroxylase. ![]()
0 Comments
Leave a Reply. |
Details
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |