Cerebrotendinous xanthomatosis

摘要

Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease. Molecular diagnosis provides means for the identification of heterozygotes and pre-symptomatic detection of affected individuals.