Aldubayan Saud H, Rodan Lance H, Berry Gerard T, Levy Harvey L
From the *Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; and †Department of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Pediatr Emerg Care. 2017 Apr;33(4):296-301. doi: 10.1097/PEC.0000000000001093.
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 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 medicine physicians, pediatricians, internists, critical care physicians, and biochemical geneticists to be familiar with 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 fatty acid oxidation and carnitine 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）领域的专科医生随访，但也可能在非该专科环境下就诊。由于IEMs可能急性发作，出现危及生命的危象，需要特定干预，因此急诊医学医生、儿科医生、内科医生、重症监护医生和生化遗传学家熟悉这些疾病患者的初始评估和管理至关重要。恰当的早期治疗可挽救生命。本方案并非旨在取代生化遗传学家的专家会诊，而是为了改善早期治疗，并提高急症医生对脂肪酸氧化和肉碱紊乱初始管理的舒适度，直至获得专科会诊。
