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Article

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

Biochimica et biophysica acta - 1 Sept 2012

Kemp Stephan, Berger Johannes, Aubourg Patrick

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. The two main clinical phenotypes of X-ALD are adrenomyeloneuropathy (AMN) and inflammatory cerebral ALD that manifests either in children or more rarely in adults. About 65% of heterozygote females develop symptoms by the age of 60years. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an...

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Identifiers

PMID: 22483867
DOI: 10.1016/j.bbadis.2012.03.012

Genes

ABCD1
AMN
ELOVL1

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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