Balkan journal of medical genetics : BJMG
X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.
M Mansouri, T Smol, N Louhabe, M Rama, N Rada, N Fdil, M Bouskraoui, N Aboussair
Published: 202510.2478/bjmg-2025-0002
Abstract
Open AccessX-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.