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Chapter 26 - Disorders of Cholesterol Metabolism: Cerebrotendinous Xanthomatosis and Movement Disorders

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Fanny Mochel  and
Emmanuel Roze
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

Bile acids are synthesized via the classic pathway initiated by cholesterol 7-alpha-hydroxylase (CYP7A1) or via alternate pathways, one of which is initiated by sterol 27-hydroxylase (CYP27). Cerebrotendinous xanthomatosis (CTX) is due to bi-allelic mutations in the CYP27A1 gene, which encodes the mitochondrial cytochrome P-450 enzyme sterol 27-hydroxylase. Deficiency in this enzyme interferes with sterol intermediates in the alternative bile acid pathway.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 321 - 326
Publisher: Cambridge University Press
Print publication year: 2020

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