{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T03:26:51Z","timestamp":1792985211180,"version":"4.5.0"},"reference-count":13,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,1,1]]},"abstract":"<jats:p>The late-onset type of ornithine transcarbamylase (OTC) deficiency is almost asymptomatic before an abrupt onset of metabolic crisis in adolescence. This study focused on coagulopathy in OTC deficiency. We collected laboratory data regarding coagulation from OTC-deficient patients in Kyushu University Hospital in Japan or from cases reported from previous articles. Five patients with late-onset OTC deficiency, admitted to Kyushu University Hospital at the first metabolic attack or who presented at the outpatient clinic in the hospital, were analyzed, and 3 additional cases of OTC deficiency with coagulopathy in previous articles were included. As a result, the blood ammonia levels in these patients were remarkably high at the time of the metabolic attack, and prothrombin times were far below the normal level. The prothrombin times remained significantly abnormal on remission, despite almost normal levels of blood ammonia, serum aspartate aminotransferase, and alanine aminotransferase. Coagulation abnormality is a previously unidentified complication of OTC deficiency in remission state. This information will aid in the identification of patients with OTC deficiency before a lethal metabolic crisis occurs during adolescence.<\/jats:p>","DOI":"10.1542\/peds.2012-0030","type":"journal-article","created":{"date-parts":[[2012,12,4]],"date-time":"2012-12-04T08:47:12Z","timestamp":1354610832000},"page":"e327-e330","source":"Crossref","is-referenced-by-count":8,"title":["Coagulopathy in Patients With Late-Onset Ornithine Transcarbamylase Deficiency in Remission State: A Previously Unrecognized Complication"],"prefix":"10.1542","volume":"131","author":[{"given":"Kenji","family":"Ihara","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Yoshino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Kurume University School of Medicine; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Hoshina","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawomi","family":"Harada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Kurume University School of Medicine; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kanako","family":"Kojima-Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Makimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoriko","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health, Kurume University School of Medicine; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Shimane University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Hara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,1,1]]},"reference":[{"key":"2021120823484215500_B1","article-title":"Long-term outcome and intervention of urea cycle disorders in Japan.","author":"Kido","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"2021120823484215500_B2","doi-asserted-by":"crossref","first-page":"556","DOI":"10.7326\/0003-4819-106-4-556","article-title":"Ornithine transcarbamylase deficiency: adult onset of severe symptoms.","volume":"106","author":"Gilchrist","year":"1987","journal-title":"Ann Intern Med"},{"issue":"6","key":"2021120823484215500_B3","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/S0022-3476(05)80129-5","article-title":"Late-onset ornithine transcarbamylase deficiency in male patients.","volume":"117","author":"Finkelstein","year":"1990","journal-title":"J Pediatr"},{"issue":"3","key":"2021120823484215500_B4","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1159\/000468724","article-title":"Ornithine transcarbamylase deficiency in male adolescence and adulthood.","volume":"43","author":"Yoshino","year":"1990","journal-title":"Enzyme"},{"issue":"10","key":"2021120823484215500_B5","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0168-9525(90)90255-5","article-title":"Molecular detection and correction of ornithine transcarbamylase deficiency.","volume":"6","author":"Grompe","year":"1990","journal-title":"Trends Genet"},{"issue":"6","key":"2021120823484215500_B6","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1002\/hep.510240618","article-title":"A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.","volume":"24","author":"Schimanski","year":"1996","journal-title":"Hepatology"},{"issue":"pt 3","key":"2021120823484215500_B7","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1258\/acb.2010.009250","article-title":"Fatal ammonia toxicity in an adult due to an undiagnosed urea cycle defect: under-recognition of ornithine transcarbamylase deficiency.","volume":"47","author":"Thurlow","year":"2010","journal-title":"Ann Clin Biochem"},{"issue":"4","key":"2021120823484215500_B8","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1097\/00005176-199605000-00007","article-title":"Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency.","volume":"22","author":"Zammarchi","year":"1996","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"2","key":"2021120823484215500_B9","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/0268-960X(92)90011-E","article-title":"Vitamin K metabolism and nutriture.","volume":"6","author":"Shearer","year":"1992","journal-title":"Blood Rev"},{"issue":"1","key":"2021120823484215500_B10","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s10545-006-0120-7","article-title":"HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.","volume":"29","author":"Fecarotta","year":"2006","journal-title":"J Inherit Metab Dis"},{"issue":"4","key":"2021120823484215500_B11","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1097\/00005176-199211000-00011","article-title":"Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy.","volume":"15","author":"Smith","year":"1992","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"11","key":"2021120823484215500_B12","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.1161\/ATVBAHA.107.156992","article-title":"Anticoagulant effect of dietary fish oil in hyperlipidemia: a study of hepatic gene expression in APOE2 knock-in mice.","volume":"28","author":"Vanschoonbeek","year":"2008","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"13","key":"2021120823484215500_B13","doi-asserted-by":"crossref","first-page":"3016","DOI":"10.1182\/blood-2011-10-378950","article-title":"How I treat with anticoagulants in 2012: new and old anticoagulants, and when and how to switch.","volume":"119","author":"Schulman","year":"2012","journal-title":"Blood"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/1\/e327\/898003\/peds_2012-0030.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/1\/e327\/898003\/peds_2012-0030.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T05:03:24Z","timestamp":1639026204000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/131\/1\/e327\/30785\/Coagulopathy-in-Patients-With-Late-Onset-Ornithine"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2013,1,1]]},"published-print":{"date-parts":[[2013,1,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2012-0030","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,1]]}}}