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Article

A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.

Pediatric diabetes - 1 Dec 2017

Barrosse-Antle Mary, Su Chang, Chen Pan, Boodhansingh Kara E, Smith Thomas J, Stanley Charles A, De León Diva D, Li Changhong

Abstract excerpt

Activating mutations in the GLUD1 gene, which encodes glutamate dehydrogenase (GDH), result in the hyperinsulinism-hyperammonemia syndrome. GDH is an allosterically regulated enzyme responsible for amino acid-mediated insulin secretion via the oxidative deamination of glutamate to 2-oxoglutarate, leading to ATP production and insulin release. This study characterizes a novel combination of mutations in GLUD1...

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Identifiers

PMID: 28165182
DOI: 10.1111/pedi.12507
PMCID: PMC5545170

Genes

GLUD1

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