Abstract: Hyperinsulinism-hyperammonemia syndrome（HI/HA）is the second most common subtype of congenital hyperinsulinemia（HI）. Children with HI/HA syndrome have fasting and protein-sensitive hypoglycemia，accompanied with persistent hyperammonemia. GLUD1 mutations associated with glutamate dehydrogenase deficiency cause HI/HA syndrome. Glutamate dehydrogenase is expressed in liver，kidney，brain，and pancreas. Neurological damage is common in patients with HI/HA syndrome，even in the patients with normal blood glucose. Diazoxide，a KATP channel agonist，can well control hypoglycemia in HI/HA syndrome，but hyperammonemia cannot be improved. 

Key words: hypoglycemia, hyperinsulinemia, hyperammonemia, glutamate dehydrogenase, diazoxide, epilepsy

摘要： 高胰岛素血症-高氨血症综合征（hyperinsulinism-hyperammonemia syndrome，HI/HA syndrome）是先天性高胰岛素血症（HI）中第二大常见亚型。患有该综合征的儿童有空腹和高蛋白质饮食诱发的低血糖，并伴有持续高氨血症。编码谷氨酸脱氢酶的基因GLUD1致病变异是HI/HA综合征的病因。谷氨酸脱氢酶在肝、肾、脑和胰腺细胞中表达。即使在血糖正常的情况下，HI/HA综合征患者出现神经系统损害较常见。服用ATP敏感的钾离子通道开放剂二氮嗪可以很好地控制HI/HA综合征患者的低血糖，但高氨血症无法改善。

关键词: 低血糖, 高胰岛素血症, 高氨血症, 谷氨酸脱氢酶, 二氮嗪, 癫痫