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Article

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

Pediatric neurology - 1 Sept 2013

Hung Kun-Long, Wang Jinn-Shyan, Keng Wee Teik, Chen Hui-Ju, Liang Jao-Shwann, Ngu Lock Hock, Lu Jyh-Feng

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy is caused by a defective peroxisomal membrane transporter, ABCD1, responsible for transporting very-long-chain fatty acid substrate into peroxisomes for degradation. The main biochemical defect, which is also one of the major diagnostic hallmarks, of X-linked adrenoleukodystrophy is the accumulation of saturated very-long-chain fatty acids in all tissues and body fluids....

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Source

Identifiers

PMID: 23835273
DOI: 10.1016/j.pediatrneurol.2013.04.021

Genes

ABCD1

Variants

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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