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Article

First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century.

Clinical genetics - 1 Feb 2022

Badura-Stronka Magdalena, Hirschfeld Adam Sebastian, Winczewska-Wiktor Anna, Budzyńska Edyta, Jakubiuk-Tomaszuk Anna, Piontek Anita, Steinborn Barbara, Kozubski Wojciech

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is an inborn error of metabolism caused by recessive variants in the cytochrome P450 CYP27A1 gene. CTX is said to manifest with childhood-onset chronic diarrhea and the classic triad of juvenile-onset cataracts, Achilles tendons xanthomas, and progressive ataxia. It is currently one of the few inherited neurometabolic disorders amenable to a specific treatment. The diagnosis...

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Source

Identifiers

PMID: 34689324
DOI: 10.1111/cge.14079

Genes

CYP27A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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