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Abstract
It was recently proposed that the increased biosynthesis of cholestanol in cerebrotendinous xanthomatosis (CTX) is due to increased activity of the Δ5-3β-hydroxysteroid dehydrogenase involved in bile acid biosynthesis, causing increased conversion of cholesterol into cholestanol through 4-cholesten-3-one. Our attempts to confirm this hypothesis have failed. Liver biopsy specimens from two patients with CTX did not have any increased capacity to catalyze conversion of 7α–hydroxycholesterol into 7α-hydroxy-4-cholesten-3-one. Further, we did not find any changes in the activity of liver microsomal Δ5-3β-hydroxysteroid dehydrogenase after feeding rabbits with cholestanol or cholesterol. The findings are discussed in relation to our hypothesis that the accelerated biosynthesis of cholestanol in CTX is due to an increased conversion of early bile acid intermediates into cholestanol.