Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

doi:10.1002/jimd.70159

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Article

Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris.

Journal of inherited metabolic disease - 1 Mar 2026

De Bruyne Aurélie, Imbard Apolline, Roux Charles-Joris, Chamouine Abdourhahim, Schwab Camille, Brassier Anaïs, Arnoux Jean-Baptiste, Bouchereau Juliette, Laroche-Raynaud Cécile, Mekdade Tristan, Gaschignard Margaux, Berat Claire-Marine, Pontoizeau Clément, Gobin-Limballe Stéphanie, de Lonlay Pascale, Benoist Jean-François, Schiff Manuel

Abstract excerpt

Arginase 1 deficiency (ARG1D) is the least common urea cycle disorder. Neonatal onset is rarely described, and hyperammonemic coma is less common in patients with ARG1D compared to other urea cycle disorders. In recent years, we diagnosed a high number of ARG1D patients in Mayotte, an insular (Comoro Islands) department of France. This study aimed at retrospectively analyze and compare our patients' data with...

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PMID: 41684183
DOI: 10.1002/jimd.70159
PMCID: PMC12902588

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CHM
ARG1

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