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Article

X-linked adrenoleukodystrophy: pathogenesis and treatment.

Current neurology and neuroscience reports - 1 Oct 2014

Engelen Marc, Kemp Stephan, Poll-The Bwee-Tien

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a puzzling inborn error of metabolism with a strikingly heterogeneous clinical spectrum. All patients have mutations in the ABCD1 gene and accumulate very long chain fatty acids in all tissues. Virtually all male X-ALD patients develop adrenocortical insufficiency in childhood and progressive myelopathy and peripheral neuropathy in adulthood. A subset of male patients,...

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Source

Identifiers

PMID: 25115486
DOI: 10.1007/s11910-014-0486-0

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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