Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydr...

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Autores principales: Zeng, Qiao, Sang, Yan-Mei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887739/
https://www.ncbi.nlm.nih.gov/pubmed/36721237
http://dx.doi.org/10.1186/s13023-023-02624-6
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author Zeng, Qiao
Sang, Yan-Mei
author_facet Zeng, Qiao
Sang, Yan-Mei
author_sort Zeng, Qiao
collection PubMed
description Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI.
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spelling pubmed-98877392023-02-01 Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment Zeng, Qiao Sang, Yan-Mei Orphanet J Rare Dis Review Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration. To date,15 genes have been found to be associated with the pathogenesis of CHI. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI and is caused by mutations in the glutamate dehydrogenase 1 gene. The objective of this review is to summarize the genetic mechanisms, diagnosis and treatment progress of GDH-HI. Early diagnosis and treatment are extremely important to prevent long-term neurological complications in children with GDH-HI. BioMed Central 2023-01-31 /pmc/articles/PMC9887739/ /pubmed/36721237 http://dx.doi.org/10.1186/s13023-023-02624-6 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Zeng, Qiao
Sang, Yan-Mei
Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title_full Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title_fullStr Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title_full_unstemmed Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title_short Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
title_sort glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9887739/
https://www.ncbi.nlm.nih.gov/pubmed/36721237
http://dx.doi.org/10.1186/s13023-023-02624-6
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