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Article

A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2015

Cai Yan-na, Jiang Min-yan, Liang Cui-li, Peng Min-zhi, Cheng Jing, Sheng Hui-ying, Fan Li-ping, Chen Xi-qing, Liu Li

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) (OMIM: 300100) is a recessive neurodegenerative disorder caused by defects in the ABCD1 gene on chromosome Xq28. Childhood cerebral ALD (CCALD) is the most frequent phenotype. OBJECTIVE: We describe an affected boy who developed normally until he was 8 years old then suffered progressive neurological deficits that ultimately led to death. METHODS: Diagnosis was...

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Source

Identifiers

PMID: 25423669
DOI: 10.1515/jpem-2013-0441

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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