Open Access Journal of
eISSN: 2575-9086
Submit manuscript...
Review Article Volume 9 Issue 1
Unraveling X-linked adrenoleukodystrophy: from genetic roots to therapeutic horizons
Julia Fernandes Freire, Alexandre Azenha Alves de Rezende
Received: September 30, 2026 | Published: October 15, 2026
Citation: Freire JF, Rezende AAA. Unraveling X-linked adrenoleukodystrophy: from genetic roots to therapeutic horizons. Open Access J Sci. 2026;9(1):482-484. DOI: 10.15406/oajs.2026.09.00332
Abstract
X-linked adrenoleukodystrophy (X-ALD) is a severe inherited metabolic disorder caused by mutations in the ABCD1 gene. This review integrates the genetic, biochemical, clinical, and therapeutic aspects of the disease. We describe the role of the ALDP transporter in peroxisomal beta-oxidation and how its dysfunction leads to the accumulation of very-longchain fatty acids (VLCFAs) and subsequent neurotoxicity. We also highlight advances in newborn screening and modern treatments, such as hematopoietic stem cell transplantation and the newly approved gene therapy (elivaldogene autotemcel), discussing their indications and limits. The objective is to provide a comprehensive update on X-ALD management and future perspectives.
Keywords: X-linked adrenoleukodystrophy, ABCD1 gene, very-long-chain fatty acids, newborn screening, gene therapy
©2026 Freire, et al. This is an open access article distributed under the terms of the, which permits unrestricted use, distribution, and build upon your work non-commercially.