{"pk":1216,"title":"Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report","subtitle":null,"abstract":"Introduction: \nCitrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination. Urea cycle disorders are typically diagnosed on neonatal screening but rarely can lie dormant until a metabolic stressor causes initial onset of symptoms in adulthood.\nCase Report:\n A 23-year-old female presented four days postpartum to the emergency department (ED) obtunded and declined to the point of requiring intubation. Labs revealed hyperammonemia, and she was subsequently found to have CTLN1.\nConclusion: \nUrea cycle disorders presenting in adulthood are a rare etiology for the common ED complaint of altered mental status. The low incidence makes these treatable disorders easy to overlook leading to potentially significant morbidity and mortality. Therefore, it is important to recognize the risk factors that can trigger an acute metabolic derangement. This case highlights common risk factors for metabolic stress, possible presenting symptoms, and the positive outcome achievable when recognized and treated in a timely fashion.","language":"en","license":{"name":"Creative Commons Attribution 4.0","short_name":"CC BY 4.0","text":"Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.\r\n\r\nNo additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.","url":"https://creativecommons.org/licenses/by/4.0"},"keywords":[{"word":"case report"},{"word":"citrullinemia type 1"},{"word":"urea cycle disorder"},{"word":"hyperammonemia"}],"section":"Case Reports","is_remote":true,"remote_url":"https://escholarship.org/uc/item/9qp9k90t","frozenauthors":[{"first_name":"Michael","middle_name":"","last_name":"Borsuk","name_suffix":"","institution":"Madigan Army Medical Center, Tacoma, Washington","department":"None"},{"first_name":"Mathew","middle_name":"","last_name":"Saab","name_suffix":"","institution":"Madigan Army Medical Center, Department of Emergency Medicine, Tacoma, Washington","department":"None"},{"first_name":"Michael","middle_name":"","last_name":"Tobin","name_suffix":"","institution":"Madigan Army Medical Center, Department of Emergency Medicine, Tacoma, Washingtonb","department":"None"}],"date_submitted":"2023-01-24T19:13:14Z","date_accepted":"2023-01-24T19:13:14Z","date_published":"2023-01-24T08:00:00Z","render_galley":null,"galleys":[{"label":"","type":"","path":"https://journalpub.escholarship.org/uciem_cpcem/article/1216/galley/953/download/"}]}