Cerebrotendinous xanthomatosis is treatable.
Cerebrotendinous xanthomatosis is a recessively inherited disorder of bile acid metabolism. Cataracts and tendinous xanthomas begin during adolescence. Results of routine tests of plasma lipids are normal. Therapy with chenodeoxycholic acid may reduce the production of cholestanol and thus slow the course of the disease.
D000293:Adolescent; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D004083:Cholestanol / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D006801:Humans; D013710:Tendons / Q000473:pathology; D014973:Xanthomatosis / Q000188:drug therapy* / Q000378:metabolism / Q000473:pathology
D002635:Chenodeoxycholic Acid; D004083:Cholestanol; D002784:Cholesterol