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Article

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

Clinica chimica acta; international journal of clinical chemistry - 30 Jan 2016

Kallabi Fakhri, Ellouz Emna, Tabebi Mouna, Ben Salah Ghada, Kaabechi Naziha, Keskes Leila, Triki Chahnez, Kamoun Hassen

Abstract excerpt

INTRODUCTION: X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of the Very Long Chain Fatty Acids (VLCFA) in plasma and tissues, especially in the cortex of the adrenal glands and the white matter of the central nervous...

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Source

Identifiers

PMID: 26686776
DOI: 10.1016/j.cca.2015.12.014

Genes

ABCD1

Variants

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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