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Article

Two unrelated Chinese patients with hyperinsulinism /hyperammonemia (HI/HA) syndrome due to mutations in glutamate dehydrogenase gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jul 2010

Diao Chengming, Chen Shi, Xiao Xinhua, Wang Tong, Sun Xiaofang, Wang Ou, Song Hongmei, Zhang Yun, Yu Miao, Zhang Qian, Wang Heng

Abstract excerpt

BACKGROUND: Hyperinsulinism/ hyperammonemia (HI/HA) syndrome is caused by excessive activity of glutamate dehydrogenase (GDH) encoded by GLUD1 gene, which oxidizes glutamate to alpha-ketoglutarate and which is a potential regulator of insulin secretion in pancreatic beta cells and of ureagenesis in the liver. So GDH is important in normal glucose homeostasis. Mutations of GDH result in HI/ HA syndrome. METHODS:...

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Identifiers

PMID: 20857847
DOI: 10.1515/jpem.2010.23.7.733

Genes

GLUD1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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