{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T14:06:54Z","timestamp":1793196414641,"version":"4.5.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"1","funder":[{"name":"The Research Grant of Kyoto Prefectural Public University Corporation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,1,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We described two Japanese siblings with arginase-1 (ARG1) deficiency. A 10-year-old girl (the proband and elder sister) was referred to our hospital complaining about her short stature. We diagnosed her with ARG1 deficiency, possibly with elevated levels of blood ammonia and plasma arginine. Her younger sister was found to have spastic paraparesis in her lower extremities and short stature at the age of 4 years. The younger sister also had high levels of plasma arginine, instead of normal levels of blood ammonia. Interestingly, they also prefer to avoid protein-rich foods such as meat, soybeans, cow milk, and dairy products. Genetic testing identified compound heterozygous mutations (c.121_122insCTT [p.Lys41Thrfs<jats:sup>\u2217<\/jats:sup>2] and c.298G&gt;A [p.Asp100Asn]) in the <jats:italic>ARG1<\/jats:italic> gene. The <jats:italic>ARG1<\/jats:italic> mutation of p.Lys41Thrfs<jats:sup>\u2217<\/jats:sup>2 is a novel pathogenic mutation according to open databases and literature.<\/jats:p>","DOI":"10.1515\/jpem-2021-0436","type":"journal-article","created":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T21:11:05Z","timestamp":1634332265000},"page":"125-129","source":"Crossref","is-referenced-by-count":5,"title":["Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of <i>ARG1<\/i> (p.Lys41Thrfs<sup>\u2217<\/sup>2)"],"prefix":"10.1515","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3678-9918","authenticated-orcid":false,"given":"Hisakazu","family":"Nakajima","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Science , Kyoto Prefectural University of Medicine , Kyoto , Japan"},{"name":"Department of Pediatrics , University Hospital, Kyoto Prefectural University of Medicine , Kyoto , Japan"},{"name":"Department of Pediatrics , Midorigaoka Hospital, Takatsuki , Osaka 5611121 , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7544-0399","authenticated-orcid":false,"given":"Shota","family":"Fukuhara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Science , Kyoto Prefectural University of Medicine , Kyoto , Japan"},{"name":"Department of Pediatrics , University Hospital, Kyoto Prefectural University of Medicine , Kyoto , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,10,18]]},"reference":[{"key":"2023040100325812460_j_jpem-2021-0436_ref_001","doi-asserted-by":"crossref","unstructured":"Therrell, BL, Currier, R, Lapidus, D, Grimm, M, Cederbaum, SD. Newborn screening for hyperargininemia due to arginase 1 deficiency. Mol Genet Metabol 2017;121:308\u201313. https:\/\/doi.org\/10.1016\/j.ymgme.2017.06.003.","DOI":"10.1016\/j.ymgme.2017.06.003"},{"key":"2023040100325812460_j_jpem-2021-0436_ref_002","doi-asserted-by":"crossref","unstructured":"Zhang, T, Wei, N, Li, M, Xie, K, Li, JQ, Huang, CG, et al.. Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China. BMC Pediatr 2018;18:110. https:\/\/doi.org\/10.1186\/s12887-018-1090-2.","DOI":"10.1186\/s12887-018-1090-2"},{"key":"2023040100325812460_j_jpem-2021-0436_ref_003","doi-asserted-by":"crossref","unstructured":"Loeber, JG, Burgard, P, Cornel, MC, Rigter, T, Weinreich, SS, Rupp, K, et al.. Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. 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Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature. Amino Acids 2015;47:1751\u201362. https:\/\/doi.org\/10.1007\/s00726-015-2032-z.","DOI":"10.1007\/s00726-015-2032-z"},{"key":"2023040100325812460_j_jpem-2021-0436_ref_009","doi-asserted-by":"crossref","unstructured":"Huemer, M, Carvalho, DR, Brum, JM, \u00dcnal, \u00d6, Coskun, T, Weisfeld-Adams, JD, et al.. Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. 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