{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T21:29:58Z","timestamp":1764019798532,"version":"3.40.4"},"reference-count":9,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Ornithine transcarbamylase (OTC) deficiency is the most common inborn error in the metabolism of the urea cycle with an incidence of 1 in 14\u2005000 live births. Pregnancy can trigger potentially fatal hyperammonemic crises. We report a successful pregnancy in a 29-year-old primiparous patient with a known diagnosis of OTC deficiency since infancy. Hyperammonemic complications were avoided due to careful multidisciplinary management which included a detailed antenatal, intrapartum and postnatal plan. Management principles include avoidance of triggers, a low-protein diet and medications which promote the removal of nitrogen by alternative pathways. Triggers include metabolic stress such as febrile illness, particularly gastroenteritis, fasting and any protein loading. In our case the patient, in addition to a restricted protein intake, was prescribed sodium benzoate 4\u2005g four times a day, sodium phenylbutyrate 2\u2005g four times a day and arginine 500\u2005mg four times a day to aid excretion of ammonia and reduce flux through the urea cycle.<\/jats:p>","DOI":"10.1136\/bcr-2012-007416","type":"journal-article","created":{"date-parts":[[2013,1,3]],"date-time":"2013-01-03T08:10:10Z","timestamp":1357200610000},"page":"bcr2012007416","source":"Crossref","is-referenced-by-count":20,"title":["Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications"],"prefix":"10.1136","volume":"2013","author":[{"given":"Stephanie","family":"Lamb","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina Yi Ling","family":"Aye","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucy","family":"Mackillop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,1,2]]},"reference":[{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijoa.2011.09.007"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1254240"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9389-2"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.4","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5514-4"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.5","unstructured":"Brusilow S Horwich A . Urea cycle enzymes. In: Scriver C Sly WS Childs B . eds. The metabolic and molecular basis of inherited disease. 8th edn. New York: McGraw-Hill, 2000:1909\u201363."},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.6","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.54.4.1008"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.7","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1056\/NEJM199006073222307","article-title":"Hyperammonaemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma","volume":"332","author":"Arn","year":"1990","journal-title":"N Engl J Med"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.8","first-page":"482","article-title":"Acute postpartum mental status change and coma caused by previously undiagnosed ornithine transcarbamylase deficiency","volume":"302","author":"Peterson","year":"1980","journal-title":"N Engl J Med"},{"key":"2025042701300547000_2013.jan02_1.bcr2012007416.9","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510240618"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2012-007416","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,27]],"date-time":"2025-04-27T08:30:15Z","timestamp":1745742615000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2012-007416"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,2]]},"references-count":9,"alternative-id":["10.1136\/bcr-2012-007416"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2012-007416","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,1,2]]}}}