{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T08:56:58Z","timestamp":1736585818928,"version":"3.32.0"},"reference-count":15,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0315_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle, caused by mutations in the <jats:italic>OTC<\/jats:italic> gene located on the X chromosome. OTCD presents in early and late-onset forms, with variable severity. Despite the high genetic heterogeneity, genotype-phenotype correlations help in prognosis and treatment planning. This study presents a novel missense mutation in an Iranian girl with OTCD, occurring <jats:italic>de novo<\/jats:italic>, contributing to the understanding of the disease\u2019s genetic landscape.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0315_abs_002\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>A 2-year-old girl from a consanguineous marriage presented with nausea, recurrent vomiting, and seizure. Elevated plasma ammonia, liver enzyme tests, and hepatomegaly suggested metabolic disorders. Following whole exome test, a novel heterozygous missense mutation in exon 7 of the <jats:italic>OTC<\/jats:italic> gene (c.674C&gt;T) was identified in the patient. Despite maternal and paternal testing, no mutation was detected.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0315_abs_003\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Identifying new mutations in populations helps mitigate the high mortality rates associated with OTCD hyperammonemic episodes and provides the best course of treatment, especially considering the diverse phenotypic variations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0315","type":"journal-article","created":{"date-parts":[[2024,11,25]],"date-time":"2024-11-25T09:51:12Z","timestamp":1732528272000},"page":"90-94","source":"Crossref","is-referenced-by-count":0,"title":["A novel <i>de novo<\/i> missense <i>OTC<\/i> mutation in an Iranian girl: a case report"],"prefix":"10.1515","volume":"38","author":[{"given":"Ensiyeh","family":"Bahadoran","sequence":"first","affiliation":[{"name":"Cellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Diseases , Qazvin University of Medical Sciences , Qazvin , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatemeh","family":"Saffari","sequence":"additional","affiliation":[{"name":"Children Growth Research Center, Research Institute for Prevention of Non-Communicable Disease , Qazvin University of Medical Science , Qazvin , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrzad","family":"Ramezani","sequence":"additional","affiliation":[{"name":"Khatam Pathobiology and Genetic Lab , Qazvin , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7653-8689","authenticated-orcid":false,"given":"Sahar","family":"Moghbelinejad","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Research Center, Research Institute for Prevention of Non-Communicable Diseases , Qazvin University of Medical Sciences , Qazvin , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,11,25]]},"reference":[{"key":"2025011004321630300_j_jpem-2024-0315_ref_001","unstructured":"Ogino, W, Takeshima, Y, Nishiyama, A, Okizuka, YO, Yagi, M, Tsuneishi, S, et al.. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. Kobe J Med Sci 2007;53:229\u201340."},{"key":"2025011004321630300_j_jpem-2024-0315_ref_002","doi-asserted-by":"crossref","unstructured":"Pinner, JR, Freckmann, ML, Kirk, EP, Yoshino, M. Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature. J Med Case Rep 2010;4:361. https:\/\/doi.org\/10.1186\/1752-1947-4-361.","DOI":"10.1186\/1752-1947-4-361"},{"key":"2025011004321630300_j_jpem-2024-0315_ref_003","doi-asserted-by":"crossref","unstructured":"Lu, D, Han, F, Qiu, W, Zhang, H, Ye, J, Liang, L, et al.. Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency. 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X-chromosome inactivation and related diseases. Genet Res (Camb). 2022;2022. https:\/\/doi.org\/10.1155\/2022\/1391807.","DOI":"10.1155\/2022\/1391807"},{"key":"2025011004321630300_j_jpem-2024-0315_ref_010","doi-asserted-by":"crossref","unstructured":"Seker Yilmaz, B, Gissen, P. Genetic therapy approaches for ornithine transcarbamylase deficiency. Biomedicines 2023;11:2227. https:\/\/doi.org\/10.3390\/biomedicines11082227.","DOI":"10.3390\/biomedicines11082227"},{"key":"2025011004321630300_j_jpem-2024-0315_ref_011","doi-asserted-by":"crossref","unstructured":"Legras, A, Labarthe, F, Maillot, F, Garrigue, MA, Kouatchet, A, Ogier De Baulny, H. Late diagnosis of ornithine transcarbamylase defect in three related female patients: polymorphic presentations. 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J Pharm Biomed Anal 2009;49:1292\u20135. https:\/\/doi.org\/10.1016\/j.jpba.2009.03.001.","DOI":"10.1016\/j.jpba.2009.03.001"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0315\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0315\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T04:33:00Z","timestamp":1736483580000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0315\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,25]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,11,25]]},"published-print":{"date-parts":[[2025,1,29]]}},"alternative-id":["10.1515\/jpem-2024-0315"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0315","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2024,11,25]]}}}