{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T09:01:50Z","timestamp":1784883710389,"version":"3.55.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T00:00:00Z","timestamp":1770854400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    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 those diagnosed and followed in Paris. We present a series of 27 subjects included either in the Center Hospitalier de Mayotte (CHM), Mamoudzou, France (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200917), or in H\u00f4pital Necker\u2010Enfants Malades (NEM), Paris, France (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200910). Median age at diagnosis (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200927) was 2\u2009years (ranging from birth to 15\u2009years). Patients diagnosed at CHM were generally older than those diagnosed at NEM, which may reflect a longer diagnostic delay in CHM. The main clinical features at diagnosis included hyperammonemic coma (with or without liver failure) and neurodevelopmental delay with spastic diplegia. Brain MRI could be either normal or showed severe lesions in patients with overt hyperammonemia at diagnosis. Eight different\n                    <jats:italic>ARG1<\/jats:italic>\n                    variants were identified, including two variants (c.466\u20102 A&gt;G and c.766G&gt;A) that were found exclusively in subjects originating from the Comoro Islands. Despite no significant differences in laboratory parameters, clinical outcomes remained better in NEM versus CHM possibly ascribable to a longer diagnostic delay in CHM. These findings revealed a new cluster of ARG1D associated with two severe variants in Mayotte, suggesting that this region could possibly benefit from targeted newborn screening for ARG1D due to its overrepresentation.\n                  <\/jats:p>","DOI":"10.1002\/jimd.70159","type":"journal-article","created":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T07:00:17Z","timestamp":1770966017000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cluster of Severe Arginase 1 Deficiency in the Comoros: Clinical, Neuroimaging, and Molecular Features in 17 Patients From Mayotte Compared With 10 From Paris"],"prefix":"10.1002","volume":"49","author":[{"given":"Aur\u00e9lie","family":"De Bruyne","sequence":"first","affiliation":[{"name":"Department of Pediatrics Centre Hospitalier de Mayotte  Mamoudzou France"},{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0420-8322","authenticated-orcid":false,"given":"Apolline","family":"Imbard","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"},{"name":"Department of Biochemistry H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"},{"name":"CEA, D\u00e9partement M\u00e9dicaments et Technologies Pour La Sant\u00e9 (DMTS) Paris\u2010Saclay University  Gif\u2010sur\u2010Yvette France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles\u2010Joris","family":"Roux","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2753-5430","authenticated-orcid":false,"given":"Abdourhahim","family":"Chamouine","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Centre Hospitalier de Mayotte  Mamoudzou France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Schwab","sequence":"additional","affiliation":[{"name":"INSERM UMR S 1018 \u2010 Centre de Recherche en Epid\u00e9miologie et Sant\u00e9 des Populations (CESP) Equipe Echappement Aux Anti\u2010Infectieux et Pharmaco\u00e9pid\u00e9miologie Universit\u00e9 Paris Saclay  Villejuif France"},{"name":"Facult\u00e9 de Pharmacie, D\u00e9partement de Pharmacie Clinique Universit\u00e9 Paris Saclay  Orsay France"},{"name":"Service Pharmacie Sorbonne Universit\u00e9, AP\u2010HP, H\u00f4pital Saint\u2010Antoine  Paris France"},{"name":"Department of Global Public Health (GPH) Epidemiology and Public Health Intervention Research (EPHIR) Group Karolinska Institute  Stockholm Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana\u00efs","family":"Brassier","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Baptiste","family":"Arnoux","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Bouchereau","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Laroche\u2010Raynaud","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Centre de Comp\u00e9tence des Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme Centre Hospitalier Universitaire de Limoges  Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tristan","family":"Mekdade","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Gaschignard","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris 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H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"de Lonlay","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"},{"name":"Inserm UMR S1151, Institut Necker\u2010Enfants Malades (INEM)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Benoist","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"},{"name":"Department of Biochemistry H\u00f4pital Necker\u2010Enfants Malades, APHP  Paris France"},{"name":"CEA, D\u00e9partement M\u00e9dicaments et Technologies Pour La Sant\u00e9 (DMTS) Paris\u2010Saclay University  Gif\u2010sur\u2010Yvette France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8272-232X","authenticated-orcid":false,"given":"Manuel","family":"Schiff","sequence":"additional","affiliation":[{"name":"Reference Center for Inherited Metabolic Diseases, H\u00f4pital Necker\u2010Enfants Malades APHP and Universit\u00e9 Paris Cit\u00e9, Fili\u00e8re G2m, MetabERN  Paris France"},{"name":"Inserm UMRS_1163 Institut Imagine  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,12]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/HUMU.23545"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009\u20108981(85)90120\u20102"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/S00109\u2010015\u20101354\u20103"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/J.YMGME.2022.08.005"},{"key":"e_1_2_12_6_1","volume-title":"GeneReviews","author":"Sun 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