Neonatal hyperinsulinism/hyperammonemia syndrome
10.3760/cma.j.issn.1673-4912.2014.09.012
- VernacularTitle:新生儿高胰岛素-高血氨综合征
- Author:
Lihua LI
;
Fang LIN
;
Jinghan CHI
;
Zhichun FENG
- Publication Type:Journal Article
- Keywords:
Hyperinsulinism/hyperammonemia syndrome;
Glutamate dehydrogenase;
Hypoglycemia;
Neonate
- From:
Chinese Pediatric Emergency Medicine
2014;21(9):583-585
- CountryChina
- Language:Chinese
-
Abstract:
Neonatal hyperinsulinism/hyperammonemia syndrome is a genetic disease result from glutamate dehydrogenase gene mutations.The clinical manifestations are hypoglycemia,hyperinsulinemia and mild hyperammonemia.Hypoglycemia may occur quickly due to eating protein.It is a rare neonatal disease that was easily ignored or delayed diagnosis and treatment causing serious sequelae of nervous system.This review summarized pathogenesis,clinical manifestation and diagnosis of the disease.
