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
Cerebrotendinous xanthomatosis is a recessively inherited in born of bile acid synthesis due
to a mutation in sterol 27-hydroxylase (CYP27A1). Patients with this disease suffer from
xanthomas located in the brain and tendon, accelerated atherosclerosis progression
neurologic disease and cataracts. Plasma cholesterol levels are normal but cholestanol and
C-27 bile alcohol that precursor of bile acid synthesis accumulate and are believe are
responsible for the atherosclerosis, xanthomas and neurologic disease. Analysis of the bile
reveal a severe sufficiency of the primary bile acid chenodeoxycholic acid that can not be
produce because of the inherited defect. However, replacement of chenodeoxycholic acid in
the enterohepatic pool inhibit abnormal bile acid synthesis and reduces the elevated level
of cholestanol and C-27 bile alcohol this therapy halt the neurologic disease and prevents
symptomatic atherosclerosis developing.
- Patients with clinical and biochemical findings of cerebrotendinous xanthomatosis.
- Elevated levels of serum cholestanol and bile acid precursors.