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谷氨酸脱氢酶1基因变构域新错义突变导致的高胰岛素血症和高氨血症综合征

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

作者信息

Chik Kar-Ki, Chan Chun-Wing, Lam Ching-Wan, Ng Kwok-Leung

机构信息

Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China.

出版信息

J Paediatr Child Health. 2008 Sep;44(9):517-9. doi: 10.1111/j.1440-1754.2008.01361.x.

DOI:10.1111/j.1440-1754.2008.01361.x
PMID:18928469
Abstract

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.

摘要

先天性高胰岛素血症是新生儿和婴儿持续性低血糖的病因之一。我们描述了一名1个月大的男婴，患有罕见形式的先天性高胰岛素血症，其特征为低血糖和高氨血症。

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Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene.谷氨酸脱氢酶1基因变构域新错义突变导致的高胰岛素血症和高氨血症综合征
J Paediatr Child Health. 2008 Sep;44(9):517-9. doi: 10.1111/j.1440-1754.2008.01361.x.
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Neurological aspects in hyperinsulinism-hyperammonaemia syndrome.高胰岛素血症-高氨血症综合征的神经学方面
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Neurological aspects of hyperinsulinism-hyperammonaemia syndrome.高胰岛素血症-高氨血症综合征的神经学方面
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Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.谷氨酸脱氢酶变构域外的新型错义突变在患有先天性高胰岛素血症-高氨血症综合征的欧洲患者中普遍存在。
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Protein causes hyperinsulinemia: a Chinese patient with hyperinsulinism/hyperammonaemia syndrome due to a glutamate dehydrogenase gene mutation.蛋白质导致高胰岛素血症：一名因谷氨酸脱氢酶基因突变患有高胰岛素血症/高氨血症综合征的中国患者。
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[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].[谷氨酸脱氢酶基因第7外显子（G979A）新发突变所致高胰岛素血症-高氨血症综合征对二氮嗪反应良好]
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