Abstract #1582

Baker E, Shamburek R, McKeon J

Cerebrotendinous xanthomatosis (CTX) is a rare inborn error of metabolism, 27-sterol hydroxylase deficiency. Dysfunction of this enzyme results in abnormal metabolism of cholesterol; instead of normal production of the bile acids chenodeoxycholate and cholate, an alternative pathway produces cholestanol and bile alcohol. Cholestanol accumulates in most body tissues, including the brain, producing a variety of neurological symptoms. The disease progresses unless treated.Two siblings with CTX were studied with quantitative MRS prior to and following one year of treatment. Changes in symptoms and serum metabolites correlated with changes in brain metabolites measured by quantitative MRS. Our findings suggest that the treatment not only halts progression of the disease, but it probably also reverses of some of the damage to the brain.