Neonatal hyperinsulinism/hyperammonemia syndrome / 中国小儿急救医学
Chinese Pediatric Emergency Medicine
;
(12): 583-585, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-455334
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Pediatric Emergency Medicine
Year:
2014
Type:
Article
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