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2018•NeurologyRequires access

Cerebrotendinous xanthomatosis

Gerald V. Raymond, Raphael Schiffmann

Open publisher page 14 citations

Abstract

Cerebrotendinous xanthomatosis (CTX; Online Mendelian Inheritance in Man No. 213700) is an autosomal recessive disorder due to pathogenic variant in the CYP27A1 gene resulting in a defect in the mitochondrial enzyme sterol 27-hydroxylase.1 The enzyme catalyzes multiple hydroxylation reactions involved in cholesterol metabolism and bile acid synthesis. When affected, it results in decreased synthesis of bile acids, with the resultant production of cholestanol and cholesterol affecting all tissues.

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What this paper is about

Cerebrotendinous xanthomatosis (CTX; Online Mendelian Inheritance in Man No. 213700) is an autosomal recessive disorder due to pathogenic variant in the CYP27A1 gene resulting in a defect in the mitochondrial enzyme sterol 27-hydroxylase.1 The enzyme catalyzes multiple hydroxylation reactions involved in cholesterol metabolism and bile acid synthesis. When affected, it results in decreased synthesis of bile acids, with the resultant production of cholestanol and cholesterol affecting all tissues.

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OpenAlex reports 14 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

Cerebrotendinous xanthomatosis (CTX; Online Mendelian Inheritance in Man No. 213700) is an autosomal recessive disorder due to pathogenic variant in the CYP27A1 gene resulting in a defect in the mitochondrial enzyme sterol 27-hydroxylase.1 The enzyme catalyzes multiple hydroxylation reactions involved in cholesterol metabolism and bile acid synthesis. When affected, it results in decreased synthesis of bile acids, with the resultant production of cholestanol and cholesterol affecting all tissues.

Key concepts: Cerebrotendinous Xanthomatosis, Cholestanol, CYP27A1, Hydroxylation, Sterol, Cholesterol, Bile acid, Enzyme

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