Neonatal hyperinsulinism/hyperammonemia syndrome

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. Key words: Hyperinsulinism/hyperammonemia syndrome; Glutamate dehydrogenase; Hypoglycemia; Neonate