ArticlePediatric diabetes2017
A severe case of hyperinsulinism due to hemizygous activating mutation of glutamate dehydrogenase.
Article in Pediatric diabetes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 18 citations in OpenAlex.
- Natural History of the Hyperinsulinism/Hyperammonemia Syndrome: A Retrospective Review Incorporating Patient-Centered Data.Hormone research in paediatrics · 2026Article
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Evolutionary Changes in Primate Glutamate Dehydrogenases 1 and 2 Influence the Protein Regulation by Ligands, Targeting and Posttranslational Modifications.International journal of molecular sciences · 2024Review
- GLUD1 inhibits hepatocellular carcinoma progression via ROS-mediated p38/JNK MAPK pathway activation and mitochondrial apoptosis.Discover oncology · 2024Article
- Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment.Orphanet journal of rare diseases · 2023Review
- Identifying target ion channel-related genes to construct a diagnosis model for insulinoma.Frontiers in genetics · 2023Article
- α-Ketoglutaric acid ameliorates hyperglycemia in diabetes by inhibiting hepatic gluconeogenesis via serpina1e signaling.Science advances · 2022Article
- The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.Frontiers in endocrinology · 2019Review
- Localization of Human Glutamate Dehydrogenases Provides Insights into Their Metabolic Role and Their Involvement in Disease Processes.Neurochemical research · 2019Review
- Genetic characteristics of patients with congenital hyperinsulinism.Current opinion in pediatrics · 2018Review
- Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.Journal of diabetes research · 2018Article
- Nutrient sensing in pancreatic islets: lessons from congenital hyperinsulinism and monogenic diabetes.Annals of the New York Academy of Sciences · 2018Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
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 found in a neonate who presented on the first day of life with severe hypoglycemia, hyperammonemia, and seizures. Mutation analysis revealed a novel frameshift mutation (c.37delC) inherited from the asymptomatic mother that results in a truncated protein and a de novo activating mutation (p.S445L) close to the GTP binding site that has previously been reported. GTP inhibition of GDH enzyme activity in 293T cells expressing the p.S445L or wild-type GDH showed that the half-maximal inhibitory concentration (IC
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