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Article

Two Single Nucleotide Deletions in the ABCD1 Gene Causing Distinct Phenotypes of X-Linked Adrenoleukodystrophy.

International journal of molecular sciences - 22 Mar 2023

Dohr Katrin A, Tokic Silvija, Gastager-Ehgartner Magdalena, Stojakovic Tatjana, Dumic Miroslav, Plecko Barbara, Dumic Katja K

Abstract excerpt

X-linked adrenoleukodystrophy (X-ALD) is a rare inborn error of the peroxisomal metabolism caused by pathologic variants in the ATP-binding cassette transporter type D, member 1 (ABCD1) gene located on the X-chromosome. ABCD1 protein, also known as adrenoleukodystrophy protein, is responsible for transport of the very long chain fatty acids (VLCFA) from cytoplasm into the peroxisomes. Therefore, altered function...

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Identifiers

PMID: 36983033
DOI: 10.3390/ijms24065957
PMCID: PMC10051867

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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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