Abstract: Ammonia plays a crucial role in biosynthesis and metabolism. Elevated blood ammonia levels can lead to irreversible damage，particularly to the central nervous system. In children，the most common causes of hyperammonemia are liver failure and inherited metabolic disorders. Inherited hyperammonemia results from defects in enzymes involved in the urea cycle or related metabolic pathways. This article systematically reviews the pathogenesis of inherited hyperammonemia and its association with mitochondrial function， and investigate the role of mitochondrial function in inherited hyperammonemia， which may provide ideas for the development of new drugs.

Key words: hyperammonemia, pathogenesis, mitochondria

摘要： 氨在生物合成和代谢中起关键作用。血氨水平升高可对中枢神经系统造成不可逆损伤。儿童高氨血症最常见的原因是肝功能衰竭和遗传代谢病。遗传性高氨血症源于尿素循环或相关代谢途径中酶的缺陷。该文系统总结了遗传性高氨血症的发病机制及其与线粒体功能的关系。研究线粒体功能在遗传性高氨血症中的作用，或可为新药研发提供思路。

关键词: 高氨血症, 发病机制, 线粒体