Accumulation of 7α‐hydroxy‐4‐cholesten‐3‐one and cholesta‐4,6‐dien‐3‐one in patients with cerebrotendinous xanthomatosis: Effect of treatment with chenodeoxycholic acid
Ingemar Björkhem, Sverre Skrede, Marie S. Buchmann, Cara East, Scott Grundy – 1 March 1987 – Evidence was recently presented that an essential part of the accumulation of cholestanol in patients with cerebrotendinous xanthomatosis is due to acceleration of a novel pathway, involving 7α‐hydroxylated intermediates in bile acid biosynthesis as precursors (J. Clin. Invest. 1985; 75:448–456). Such intermediates accumulate in patients with cerebrotendinous xanthomatosis due to lack of the mitochondrial 26‐hydroxylase involved in the major pathway for bile acid biosynthesis.