Rodan Lance H, Aldubayan Saud H, Berry Gerard T, Levy Harvey L
Pediatr Emerg Care. 2018 Jun;34(6):e115-e119. doi: 10.1097/PEC.0000000000001298.
Inborn errors of metabolism (IEMs) are genetic disorders that disrupt enzyme activity, cellular transport, or energy production. They are individually rare but collectively have an incidence of 1:1000. Most patients with IEMs are followed up by a physician with expertise in biochemical genetics (metabolism), but may present outside this setting. Because IEMs can present acutely with life-threatening crises that require specific interventions, it is critical for the emergency physician, internist, and critical care physician as well as the biochemical geneticist to have information on the initial assessment and management of patients with these disorders. Appropriate early care can be lifesaving. This protocol is not designed to replace the expert consultation of a biochemical geneticist, but rather to improve early care and increase the level of comfort of the acute care physician with initial management of urea cycle disorders until specialty consultation is obtained.
先天性代谢缺陷（IEMs）是一类破坏酶活性、细胞转运或能量产生的遗传性疾病。它们各自发病率很低，但总体发病率为1:1000。大多数IEMs患者由生化遗传学（代谢）方面的专科医生进行随访，但也可能在非专科环境下就诊。由于IEMs可能会急性发作，出现危及生命的危象，需要采取特定干预措施，因此对于急诊医生、内科医生、重症监护医生以及生化遗传学家而言，掌握这些疾病患者的初始评估和管理信息至关重要。恰当的早期护理可挽救生命。本方案并非旨在取代生化遗传学家的专家会诊，而是为了改善早期护理，并提高急症科医生在获得专科会诊之前对尿素循环障碍进行初始管理时的舒适度。
