Borsuk Michael, Saab Mathew, Tobin Michael
Madigan Army Medical Center, Tacoma, Washington.
Madigan Army Medical Center, Department of Emergency Medicine, Tacoma, Washington.
Clin Pract Cases Emerg Med. 2023 Feb;7(1):20-23. doi: 10.5811/cpcem.2022.10.57277.
Citrullinemia 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.
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.
Urea 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.
1型瓜氨酸血症（CTLN1）是一种尿素循环障碍疾病，由精氨琥珀酸合成酶缺陷导致氨清除受损引起。尿素循环障碍通常在新生儿筛查时被诊断出来，但很少会潜伏起来，直到成年期因代谢应激源引发症状初次发作。
一名23岁女性产后四天因意识不清被送往急诊科（ED），病情恶化至需要插管。实验室检查显示高氨血症，随后她被诊断为CTLN1。
成年期出现的尿素循环障碍是导致急诊科常见的精神状态改变主诉的罕见病因。发病率低使得这些可治疗的疾病容易被忽视，从而导致潜在的严重发病率和死亡率。因此，识别可能引发急性代谢紊乱的危险因素很重要。本病例突出了代谢应激的常见危险因素、可能出现的症状，以及及时识别和治疗可取得的良好结果。
