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

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

Abstract 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 sympto...

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Bibliographic Details
Main Authors: Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel, Pierre Maechler
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Human Genomics
Subjects:
Hyperinsulinism/hyperammonemia syndrome
GLUD1
Glutamate dehydrogenase
Allosteric regulation
Online Access:http://link.springer.com/article/10.1186/s40246-020-00262-8

Internet

http://link.springer.com/article/10.1186/s40246-020-00262-8

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