{"title":"Urea cycle disorders: A puzzling case of acute encephalopathy.","authors":"Maleah Roth, Laura McRae","doi":"10.1097/01.JAA.0000000000000073","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia. Following an extensive workup to determine the etiology of the hyperammonemia, the patient was found to have a UCD. Diagnosis of a UCD was challenging, not only due to the rarity of the disorder, but also in this case due to atypical presentation and multiple confounding clinical variables. However, after the UCD was identified and appropriately managed, the patient's clinical status improved.</p>","PeriodicalId":48728,"journal":{"name":"Jaapa-Journal of the American Academy of Physician Assistants","volume":"38 4","pages":"e2-e5"},"PeriodicalIF":0.8000,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Jaapa-Journal of the American Academy of Physician Assistants","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/01.JAA.0000000000000073","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/25 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract: Urea cycle disorders (UCDs) are rare genetic disorders affecting the urea cycle, a metabolic pathway that leads to the excretion of waste products such as ammonia. This case report describes a patient who developed acute encephalopathy secondary to hyperammonemia. Following an extensive workup to determine the etiology of the hyperammonemia, the patient was found to have a UCD. Diagnosis of a UCD was challenging, not only due to the rarity of the disorder, but also in this case due to atypical presentation and multiple confounding clinical variables. However, after the UCD was identified and appropriately managed, the patient's clinical status improved.
期刊介绍：
JAAPA is the peer-reviewed clinical journal of the American Academy of Physician Assistants (AAPA). Published for more than 25 years, its mission is to support the ongoing education and advancement of physician assistants (PAs) by publishing current information and research on clinical, health policy, and professional issues.
Published monthly, JAAPA''s award-winning editorial includes:
-Clinical review articles (with AAPA-approved Category I CME in each issue)-
Case reports-
Clinical departments-
Original health services research-
Articles on issues of professional interest to PAs
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