Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them

Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare, autosomal recessive, neurodegenerative lipid storage disease with multisystemic involvement.1 The incidence of CTX is estimated to be between 1/72000-1/150000, and prevalence is 3/100000-5/100000.2 CTX disease occurs due to mutations in the CYP27A1 gene on chromosome 2, which causes defects in synthesizing the sterol 27-hydroxylase enzyme that plays a role in mitochondrial cholesterol metabolism and bile acid synthesis.1,3 This enzyme deficiency causes a decrease in the production of cholic acid and chenodeoxycholic acid and an increase in the production of cholestanol and bile alcohols.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Original Research Source Type: research