{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:37:17Z","timestamp":1791333437663,"version":"4.3.1"},"reference-count":12,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,27]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Ornithine transcarbamylase (OTC) deficiency is a genetic disorder of the urea cycle characterised by deficiency in the enzyme OTC, resulting in an accumulation of ammonia. Valproic acid (VPA), a commonly used medication in the treatment of neurologic and psychiatric conditions, has been known to cause episodes of acute hyperammonaemia in patients with OTC deficiency. We present the case of a 29-year-old man with a long history of non-specific psychiatric disorders, who suffered from a hyperammonaemic crisis following the administration of VPA, leading to the diagnosis of OTC deficiency. The patient\u2019s hospital course was complicated by progressive cerebral oedema, which resulted in worsening encephalopathy, seizures and death. We discuss the pathophysiology of hyperammonaemia in OTC deficiency, and various management strategies, including lactulose, levocarnitine, scavenger therapy and haemodialysis.<\/jats:p>","DOI":"10.1136\/bcr-2020-241429","type":"journal-article","created":{"date-parts":[[2021,5,25]],"date-time":"2021-05-25T12:32:33Z","timestamp":1621945953000},"page":"e241429","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency"],"prefix":"10.1136","volume":"14","author":[{"given":"Daniel","family":"Kazmierski","sequence":"first","affiliation":[{"name":"Internal Medicine, Wright Center for Graduate Medical Education, Scranton, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5324-922X","authenticated-orcid":false,"given":"Nishant","family":"Sharma","sequence":"additional","affiliation":[{"name":"Internal Medicine, Wright Center for Graduate Medical Education, Scranton, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"O'Leary","sequence":"additional","affiliation":[{"name":"Internal Medicine, Regional Hospital of Scranton, Scranton, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pius","family":"Ochieng","sequence":"additional","affiliation":[{"name":"Pulmonary & Critical Care Medicine, Geisinger Community Medical Center, Scranton, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,5,25]]},"reference":[{"key":"2025082704015447000_14.5.e241429.1","doi-asserted-by":"publisher","DOI":"10.1007\/s12072-008-9078-x"},{"key":"2025082704015447000_14.5.e241429.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-0186(02)00033-5"},{"key":"2025082704015447000_14.5.e241429.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2016\/8512721","article-title":"Hyperammonemia: what Urea-lly need to know: case report of severe noncirrhotic hyperammonemic encephalopathy and review of the literature","volume":"2016","author":"Upadhyay","year":"2016","journal-title":"Case Rep Med"},{"key":"2025082704015447000_14.5.e241429.4","unstructured":"Lichter-Konecki U , Caldovic L , Morizono H . Ornithine Transcarbamylase Deficiency. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae. Seattle (WA): University of Washington, 2013. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK154378\/"},{"key":"2025082704015447000_14.5.e241429.5","doi-asserted-by":"publisher","DOI":"10.1097\/01.PCC.0000216682.56067.23"},{"key":"2025082704015447000_14.5.e241429.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(97)00026-X"},{"key":"2025082704015447000_14.5.e241429.7","doi-asserted-by":"publisher","DOI":"10.1177\/106002809302700510"},{"key":"2025082704015447000_14.5.e241429.8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.3.365"},{"key":"2025082704015447000_14.5.e241429.9","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.01320216"},{"key":"2025082704015447000_14.5.e241429.10","doi-asserted-by":"crossref","first-page":"454","DOI":"10.3109\/15563650.2015.1035441","article-title":"Extracorporeal treatment for valproic acid poisoning: systematic review and recommendations from the EXTRIP Workgroup","volume":"53","author":"Ghannoum","year":"2015","journal-title":"Clin Toxicol"},{"key":"2025082704015447000_14.5.e241429.11","doi-asserted-by":"crossref","first-page":"73","DOI":"10.9740\/mhc.2018.03.073","article-title":"Valproic acid\u2013induced hyperammonemia: incidence, clinical significance, and treatment management","volume":"8","author":"Baddour","year":"2018","journal-title":"Ment Health Clin"},{"key":"2025082704015447000_14.5.e241429.12","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-012-0200-y"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-241429","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:02:05Z","timestamp":1756292525000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-241429"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":12,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5,25]]},"published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1136\/bcr-2020-241429"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-241429","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}