University of Colorado, Children's Hospital Colorado, 13123 East 16th Avenue, Box 300, Aurora, CO 80045, USA.
Pediatr Clin North Am. 2023 Oct;70(5):979-993. doi: 10.1016/j.pcl.2023.05.009. Epub 2023 Jul 6.
In some relatively common inborn errors of metabolism there can be the accumulation of toxic compounds including ammonia and organic acids such as lactate and ketoacids, as well as energy deficits at the cellular level. The clinical presentation is often referred to as a metabolic emergency or crisis. Fasting and illness can result in encephalopathy within hours, and without appropriate recognition and intervention, the outcome may be permanent disability or death. This review outlines easy and readily available means of recognizing and diagnosing a metabolic emergency as well as general guidelines for management. Disease-specific interventions focus on parenteral nutrition to reverse catabolism, toxin removal strategies, and vitamin/nutrition supplementation.
在一些相对常见的先天性代谢缺陷中，可能会有毒化合物的积累，包括氨和有机酸，如乳酸和酮酸，以及细胞水平的能量不足。临床表现通常被称为代谢急症或危机。禁食和疾病可能导致数小时内出现脑病，如果没有适当的识别和干预，结果可能是永久性残疾或死亡。本综述概述了识别和诊断代谢急症的简单易行的方法以及一般管理指南。针对特定疾病的干预措施侧重于逆转分解代谢的肠外营养、毒素清除策略以及维生素/营养补充。
