Study Status: Withdrawn
Recruit Status: Withdrawn
Study Type: Interventional
Official Title: Biologic Significance of Cholestanol in Man
Brief Summary: The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.