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Article

Plasma Very-Long-Chain Fatty Acids in X-Linked Adrenoleukodystrophy: Diagnostic Insights From a Clinical Laboratory Cohort.

Journal of clinical laboratory analysis - 1 Jul 2026

Blas Sergio Molina, Pujalte Sergio Pérez, Álvarez Ana Moreno, Ríos Ana Isabel Álvarez, Cabello Beatriz Muñoz, Moreno Constanza Navarro, Gila Ana Lucia Gómez, Fuentes Elena Dios, Moreno Eva Venegas, Pecellín Carmen Delgado

Abstract excerpt

BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by pathogenic variants in the ABCD1 gene, leading to accumulation of very long-chain fatty acids (VLCFAs). Plasma VLCFA measurement is central to diagnosis, but its value for prognostic stratification remains uncertain. This study explored the association between biochemical profiles, ABCD1 variants, and clinical phenotypes, and...

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Identifiers

PMID: 42310927
DOI: 10.1002/jcla.70269
PMCID: PMC13399760

Genes

ABCD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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