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Article

Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

Pediatric neurology - 1 Aug 2014

Tran Christel, Hewson Stacy, Steinberg Steven J, Mercimek-Mahmutoglu Saadet

Abstract excerpt

BACKGROUND: Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy. PATIENT DESCRIPTION: This 8.5-year-old boy with normal development...

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Share to Adenosine Triphosphatases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to ATPases Associated with Diverse Cellular Activities

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Source

Identifiers

PMID: 25079577
DOI: 10.1016/j.pediatrneurol.2014.03.020

Genes

PEX6
ABCD1

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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