ArticleHormone research in paediatrics2022
Mosaic GLUD1 Mutations Associated with Hyperinsulinism Hyperammonemia Syndrome.
Article in Hormone research in paediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 10 citations in OpenAlex.
- Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNA.EBioMedicine · 2026Article
- Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.Journal of the Endocrine Society · 2026Article
- [Exercise-induced hyperinsulinism: genetic basis and clinical management].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.Journal of medical case reports · 2025Article
- Advanced N-glycoproteomics and proteomics approach revealed sexually dimorphic molecular signatures in primary mouse hepatocyte.Analytical and bioanalytical chemistry · 2025Article
- Low-Level Mosaic GCK Mutations in Children With Diazoxide-Unresponsive Congenital Hyperinsulinism.The Journal of clinical endocrinology and metabolism · 2025Article
- An Alternative Mechanism of Glutamate Dehydrogenase Inhibition by EGCG: Promotion of Protein Degradation.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Germline and somatic mutations in histologically atypical congenital hyperinsulinism.Frontiers in endocrinology · 2025Article
- Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia.Histology and histopathology · 2024Review
- Bridging the gaps: recent advances in diagnosis, care, and outcomes in congenital hyperinsulinism.Current opinion in pediatrics · 2023Review
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Authors and funding
8 authors at 2 institutions in 1 country.
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Abstract
introductionThe hyperinsulinemia-hyperammonemia syndrome (HIHA) is the second most common cause of congenital hyperinsulinism and is caused by activating heterozygous missense mutations in GLUD1. In the majority of HIHA cases, the GLUD1 mutation is found to be de novo. We have identified 3 patients in whom clinical evaluation was suggestive of HIHA but with negative mutation analysis in peripheral blood DNA for GLUD1 as well as other known HI genes.
methodsWe performed next-generation sequencing (NGS) on peripheral blood DNA from two children with clinical features of HIHA in order to look for mosaic mutations in GLUD1. Pancreas tissue was also available in one of these cases for NGS. In addition, NGS was performed on peripheral blood DNA from a woman with a history of HI in infancy whose child had HIHA due to a presumed de novo GLUD1 mutation.
resultsMosaic GLUD1 mutations were identified in these 3 cases at percent mosaicism ranging from 2.7% to 10.4% in peripheral blood. In one case with pancreas tissue available, the mosaic GLUD1 mutation was present at 17.9% and 28.9% in different sections of the pancreas. Two unique GLUD1 mutations were identified in these cases, both of which have been previously reported (c.1493c>t/p.Ser445Leu and c.820c>t/p.Arg221Cys).
conclusionThe results suggest that low-level mosaic mutations in known HI genes may be the underlying molecular mechanism in some children with HI who have negative genetic testing in peripheral blood DNA.
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