Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 gene

被引：9

作者：

Chik, Kar-Ki ^{[1
]}

Chan, Chun-Wing ^{[1
]}

Lam, Ching-Wan ^{[2
]}

Ng, Kwok-Leung ^{[1
]}

机构：

[1] United Christian Hosp, Dept Paediat & Adolescent Med, Kwun Tong, Hong Kong, Peoples R China

[2] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 2008年 / 44卷 / 09期

关键词：

hyperammonaemia; hyperinsulinism; hypoglycaemia;

D O I：

10.1111/j.1440-1754.2008.01361.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Congenital hyperinsulinism is one of the causes of persistent hypoglycaemia in neonates and infants. We describe a one-month-old boy with a rare form of congenital hyperinsulinism characterised by hypoglycaemia and hyperammonaemia.

引用

页码：517 / 519

页数：3

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