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Article

A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Sept 2017

Margoni M, Soli F, Sangalli A, Bellizzi M, Cecchini E, Buganza M

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene, highlighting the wide...

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Source

Identifiers

PMID: 28601575
DOI: 10.1016/j.jocn.2017.05.025

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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