Développement d’un programme multidisciplinaire de diagnostic de l’adrénoleucodystrophie liée à l’X au Maroc: résultats de la mise en œuvre du programme de diagnostic clinique et biologique

INTRODUCTION: X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease, due to mutations in the ABCD1 gene. It manifests as a damage to the central and peripheral nervous system, adrenal insufficiency and testicular damage in children. Diagnosis is based on the determination of long-chain saturated fatty acids. Early diagnosis is essential because it defines treatment accessibility according to disease stage. METHODS: We implemented a X-ALD diagnostic test program in Morocco at the Children’s Hospital and at the Central Laboratory for inherited and metabolic diseases in Rabat. The program was based around three priorities, namely: the recruitment of patients, diagnosis and awareness. Diagnosis is based on three protocols: a protocol for symptomatic cases, a protocol for asymptomatic cases and a protocol for heterozygous women. RESULTS: During the first three years after implementation of our X-ALD diagnostic test program, we diagnosed the disease in seven families, with nine boys and three heterozygous women. All children were diagnosed with demyelinating brain. All heterozygous women were asymptomatic. Different symptom-based therapies were established. CONCLUSION: X-ALD is a rare disease. Our diagnostic program has helped to diagnose a significant number of cases, hence its importance. Campaigns focused on raising awareness among health care professionals will enable a better understanding of the disease and a more accurate diagnosis as well as to improve access to health care for a higher number of patients.