Cerebrotendinous Xanthomatosis (CTX)

Cerebrotendinous Xanthomatosis, also known as ctx, is related to lipid storage disease and sitosterolemia, and has symptoms including angina pectoris, cerebellar ataxia and muscle spasticity. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Chenodeoxycholic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include skin and brain, and related phenotypes are visual impairment and juvenile cataract