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Article

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Human genomics - 6 Mar 2020

Luczkowska Karolina, Stekelenburg Caroline, Sloan-Béna Frédérique, Ranza Emmanuelle, Gastaldi Giacomo, Schwitzgebel Valérie, Maechler Pierre

Abstract excerpt

BACKGROUND: Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to protein-induced HI and elevated plasma ammonia levels. These symptoms may be accompanied by seizures and mental retardation. GDH is a mitochondrial enzyme that catalyzes the oxidative...

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Identifiers

PMID: 32143698
DOI: 10.1186/s40246-020-00262-8
PMCID: PMC7060525

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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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