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Article

Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.

Trends in endocrinology and metabolism: TEM - 1 Jul 2000

Björkhem I, Leitersdorf E

Abstract excerpt

Cerebrotendinous xanthomatosis is characterized by the accumulation of cholestanol and cholesterol in xanthomas and brain causing a number of severe symptoms. More than 20 different mutations have been identified in the gene encoding sterol 27-hydroxylase. Defects in the gene lead to reduced bile acid biosynthesis, with accumulation of 7 alpha-hydroxylated intermediates, one of which is a precursor to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 10856919
DOI: 10.1016/s1043-2760(00)00255-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.PMID 10856919Read ↗

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