{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:59:27Z","timestamp":1762001967429,"version":"build-2065373602"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T00:00:00Z","timestamp":1614729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1016\/j.ymgmr.2021.100741","type":"journal-article","created":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T01:55:24Z","timestamp":1615686924000},"page":"100741","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy"],"prefix":"10.1016","volume":"27","author":[{"given":"Sarah","family":"Al-Qattan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Malcolmson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saadet","family":"Mercimek-Andrews","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ymgmr.2021.100741_bb0005","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0002-9343(75)90358-7","article-title":"Lysinuric protein intolerance","volume":"59","author":"Simell","year":"1975","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0010","series-title":"GeneReviews\u00ae [Internet]","article-title":"Lysinuric Protein Intolerance","author":"Nunes","year":"1993"},{"issue":"3","key":"10.1016\/j.ymgmr.2021.100741_bb0015","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/6815","article-title":"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance","volume":"21","author":"Borsani","year":"1999","journal-title":"Nat. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100741_bb0020","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/humu.20589","article-title":"Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene","volume":"29","author":"Sperandeo","year":"2008","journal-title":"Hum. Mutat."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100741_bb0025","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1086\/302700","article-title":"Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance","volume":"66","author":"Sperandeo","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.ymgmr.2021.100741_bb0030","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/1098-1004(200009)16:3<270::AID-HUMU14>3.0.CO;2-J","article-title":"A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group","volume":"16","author":"Koizumi","year":"2000","journal-title":"Hum. Mutat."},{"issue":"2","key":"10.1016\/j.ymgmr.2021.100741_bb0035","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/pbc.21039","article-title":"HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis","volume":"48","author":"Henter","year":"2007","journal-title":"Pediatr. Blood Cancer"},{"issue":"5","key":"10.1016\/j.ymgmr.2021.100741_bb0040","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1136\/jnnp.52.5.648","article-title":"Familial lysinuric protein intolerance presenting as coma in two adult siblings","volume":"52","author":"Shaw","year":"1989","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100741_bb0045","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ymgme.2012.02.010","article-title":"Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder","volume":"106","author":"Ogier de Baulny","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"8","key":"10.1016\/j.ymgmr.2021.100741_bb0050","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1007\/s13312-016-0920-2","article-title":"Lysinuric protein intolerance presenting with recurrent hyperammonemic encephalopathy","volume":"53","author":"Bijarnia-Mahay","year":"2016","journal-title":"Indian Pediatr."},{"issue":"9","key":"10.1016\/j.ymgmr.2021.100741_bb0055","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1038\/s10038-019-0620-6","article-title":"Overview of symptoms and treatment for lysinuric protein intolerance","volume":"64","author":"Noguchi","year":"2019","journal-title":"J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ymgmr.2021.100741_bb0060","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1542\/peds.73.4.489","article-title":"Hyperammonemia in lysinuric protein intolerance","volume":"73","author":"Kato","year":"1984","journal-title":"Pediatrics."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0065","first-page":"21","article-title":"New developments in the treatment of hyperammonemia: emerging use of carglumic acid","volume":"4","author":"Daniotti","year":"2011","journal-title":"Int. J. Gen. Med."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100741_bb0070","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1002\/ajmg.c.30287","article-title":"Lysinuric protein intolerance: reviewing concepts on a multisystem disease","volume":"157C","author":"Sebastio","year":"2011","journal-title":"Am. J. Med. Genet. C: Semin. Med. Genet."},{"issue":"1","key":"10.1016\/j.ymgmr.2021.100741_bb0075","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/s13023-016-0550-8","article-title":"Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood","volume":"12","author":"Mauhin","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"issue":"10","key":"10.1016\/j.ymgmr.2021.100741_bb0080","first-page":"979","article-title":"Clinical and genetic features of lysinuric protein intolerance in Japan","volume":"58","author":"Noguchi","year":"2016","journal-title":"Pediatr. Int. Off. J. Japan Pediatr. Soc."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0085","series-title":"SickKids Handbook of Pediatric Thrombosis and Hemostasis","first-page":"I","author":"Blanchette","year":"2013"},{"issue":"8","key":"10.1016\/j.ymgmr.2021.100741_bb0090","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1038\/s41431-020-0617-9","article-title":"CUGC for lysinuric protein intolerance (LPI)","volume":"28","author":"Martinelli","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ymgmr.2021.100741_bb0095","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/S0022-3476(95)70552-X","article-title":"Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course","volume":"126","author":"Parenti","year":"1995","journal-title":"J. Pediatr."},{"issue":"1\u20132","key":"10.1016\/j.ymgmr.2021.100741_bb0100","first-page":"81","article-title":"Lysinuric protein intolerance: pearls to detect this otherwise easily missed diagnosis","volume":"5","author":"Alqarajeh","year":"2020","journal-title":"Transl. Sci. Rare Dis."},{"issue":"2","key":"10.1016\/j.ymgmr.2021.100741_bb0105","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0022-3476(99)70423-3","article-title":"Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance","volume":"134","author":"Duval","year":"1999","journal-title":"J. Pediatr."},{"issue":"4","key":"10.1016\/j.ymgmr.2021.100741_bb0110","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.ymgme.2012.01.008","article-title":"Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance","volume":"105","author":"Barilli","year":"2012","journal-title":"Mol. Genet. Metab."},{"issue":"5","key":"10.1016\/j.ymgmr.2021.100741_bb0115","doi-asserted-by":"crossref","first-page":"e312","DOI":"10.1111\/hae.13543","article-title":"Abnormal coagulation and enhanced fibrinolysis due to lysinuric protein intolerance associates with bleeds and renal impairment","volume":"24","author":"Pitk\u00e4nen","year":"2018","journal-title":"Haemophilia: Off. J. World Fed. Hemophilia"},{"key":"10.1016\/j.ymgmr.2021.100741_bb0120","first-page":"43","article-title":"Growth hormone therapy is safe and effective in patients with lysinuric protein intolerance","volume":"1","author":"Niinikoski","year":"2011","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0125","first-page":"1","article-title":"Erratum to: growth hormone deficiency and lysinuric protein intolerance: case report and review of the literature","volume":"19","author":"Maines","year":"2015","journal-title":"JIMD Rep."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0130","first-page":"47","article-title":"Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature","volume":"2","author":"Carpentieri","year":"2015","journal-title":"Mol. Gen. Metab. Rep."},{"key":"10.1016\/j.ymgmr.2021.100741_bb0135","first-page":"176","article-title":"Lysinuric protein intolerance presenting with multiple fractures","volume":"1","author":"Posey","year":"2014","journal-title":"Mol. Gen. Metab. Rep."},{"issue":"2","key":"10.1016\/j.ymgmr.2021.100741_bb0140","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/BF00710296","article-title":"Osteoporosis in lysinuric protein intolerance","volume":"16","author":"Parto","year":"1993","journal-title":"J. Inherit. Metab. Dis."},{"issue":"5","key":"10.1016\/j.ymgmr.2021.100741_bb0145","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1007\/s10545-007-0558-2","article-title":"Nutrient intake in lysinuric protein intolerance","volume":"30","author":"Tanner","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"10.1016\/j.ymgmr.2021.100741_bb0150","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1002\/jimd.12100","article-title":"Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision","volume":"42","author":"H\u00e4berle","year":"2019","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000355?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426921000355?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:51:20Z","timestamp":1762001480000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426921000355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6]]},"references-count":30,"alternative-id":["S2214426921000355"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100741","relation":{},"ISSN":["2214-4269"],"issn-type":[{"type":"print","value":"2214-4269"}],"subject":[],"published":{"date-parts":[[2021,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100741","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"100741"}}