Treatment of Cerebrotendinous Xanthomatosis in Pregnancy: Patient and Physician Perspectives

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis characterized by accumulation of abnormal sterols and bile acid metabolites in various tissues.1-3 Individuals with CTX have biallelic pathogenic variants in CYP27A1, the gene that encodes for sterol 27-hydroxylase, a key enzyme involved in bile acid synthesis.1-3 Disruption of this biochemical pathway leads to bile acid deficiency and elevated levels of cholestanol and other metabolites in blood and other tissues, causing a constellation of hallmark CTX symptoms that may include neonatal cholestatic jaundice, chronic diarrhea, early-onset cataracts, tendon xanthomas, and various degrees of neurological impairment and deterioration.
Source: Journal of Clinical Lipidology - Category: Lipidology Authors: Tags: Brief Communication Source Type: research