A Review on Cerebrotendinous Xanthomatosis (CTX): A Rare Autosomal Recessive Inherited Disease

Abstract

Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive disease which is caused due to the mutation of CYP27A1 gene that encodes sterol 27-hydroxylase enzyme. Due to the pathogenic variation in this enzyme the bile acid synthesis pathway gets disturbed which results in the production of bile acid intermediates especially cholesterol & bile alcohols and these gets accumulated in various parts of the body resulting in formation of xanthomas. There is no permanent cure for CTX but the early detection and treatment with cholic and chenodexycholic acids have proven to reduce the severity of the condition. CTX is a genetic disease which generally prevails from the early childhood and lasts throughout the life. Thus, proper genetic counseling is recommended to help families understand the genetics and natural history of CTX, and also to provide the psychosocial support.