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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Open Access
|Oct 2025

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation in the ABCD1 gene. This diagnosis enabled a genetic counseling with presymptomatic analysis of the disease in the patient's brother, facilitating proactive management for the family. This work expands the clinical and genetic spectrum of XALD and underscores the critical role of presymptomatic testing in the management of neurodegenerative diseases.

Language: English
Published on: Oct 8, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2025 M Mansouri, T Smol, N Louhabe, M Rama, N Rada, N Fdil, M Bouskraoui, N Aboussair, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.