Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Qiao Zeng; Yan-Mei Sang

doi:10.1186/s13023-023-02624-6

Glutamate dehydrogenase hyperinsulinism: mechanisms, diagnosis, and treatment

Orphanet J Rare Dis. 2023 Jan 31;18(1):21. doi: 10.1186/s13023-023-02624-6.

Authors

Qiao Zeng¹, Yan-Mei Sang²

Affiliations

¹ Department of Anesthesiology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, 310052, China.
² Department of Endocrinology, Genetics and Metabolism Centre, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, 100045, China. Sangym_doc@126.com.

Abstract

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.

Keywords: Congenital hyperinsulinism (CHI); Glutamate dehydrogenase 1 (GLUD1) gene; Glutamate dehydrogenase hyperinsulinism (GDH-HI).

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Child
Congenital Hyperinsulinism* / diagnosis
Congenital Hyperinsulinism* / genetics
Glutamate Dehydrogenase* / genetics
Humans
Insulin
Mutation / genetics

Substances

Glutamate Dehydrogenase
Insulin