{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:28:26Z","timestamp":1792801706101,"version":"4.5.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2014,6,24]]},"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Urea cycle disorders are inborn errors of metabolism that, in rare cases, can present for the first time in adulthood. We report a perplexing presentation in a woman 4\u2005days postpartum of bizarre and out-of-character behaviour interspersed with periods of complete normality. Without any focal neurological signs or abnormality on initial investigations, the diagnosis became clear with the finding of a significantly elevated plasma ammonia level, just as she began to deteriorate rapidly. She improved following intravenous dextrose and lipid emulsion, together with sodium benzoate, arginine and a protein-restricted diet. She remains well 12\u2005months later with no permanent sequelae. Whilst this is a rare presentation of an uncommon disease, it is a treatable disorder and its early diagnosis can prevent a fatal outcome.<\/jats:p>","DOI":"10.1136\/practneurol-2014-000916","type":"journal-article","created":{"date-parts":[[2014,8,15]],"date-time":"2014-08-15T02:28:48Z","timestamp":1408069728000},"page":"45-48","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":22,"title":["Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults"],"prefix":"10.1136","volume":"15","author":[{"given":"Nicholas F","family":"Blair","sequence":"first","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip D","family":"Cremer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Royal North Shore Hospital, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel C","family":"Tchan","sequence":"additional","affiliation":[{"name":"Adult Genetic Metabolic Disorders Service, Westmead Hospital, Sydney, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,8,14]]},"reference":[{"key":"2025090410141034000_15.1.45.1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005682017337"},{"key":"2025090410141034000_15.1.45.2","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ymgme.2013.07.008","article-title":"The incidence of urea cycle disorders","volume":"110","author":"Summar","year":"2013","journal-title":"Mol Genet Metab"},{"key":"2025090410141034000_15.1.45.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00952.x"},{"key":"2025090410141034000_15.1.45.4","doi-asserted-by":"publisher","DOI":"10.1007\/s12072-008-9078-x"},{"key":"2025090410141034000_15.1.45.5","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.12.1777"},{"key":"2025090410141034000_15.1.45.6","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000028840.97261.c6"},{"key":"2025090410141034000_15.1.45.7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006073222307"},{"key":"2025090410141034000_15.1.45.8","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80989-1"},{"key":"2025090410141034000_15.1.45.9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066596"},{"key":"2025090410141034000_15.1.45.10","unstructured":"Lanpher BC Gropman A Chapman KA . Urea cycle disorders overview. In: Pagon RA Adam MP Bird TD . eds. GeneReviews. Seattle, WA: University of Washington, 2011. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1217\/"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/practneurol-2014-000916","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T17:14:17Z","timestamp":1757006057000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/practneurol-2014-000916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,14]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2015,1,22]]},"published-print":{"date-parts":[[2015,2]]}},"alternative-id":["10.1136\/practneurol-2014-000916"],"URL":"https:\/\/doi.org\/10.1136\/practneurol-2014-000916","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,14]]}}}