Journal
ORPHANET JOURNAL OF RARE DISEASES
Volume 18, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13023-023-02624-6
Keywords
Congenital hyperinsulinism (CHI); Glutamate dehydrogenase hyperinsulinism (GDH-HI); Glutamate dehydrogenase 1 (GLUD1) gene
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Congenital hyperinsulinism (CHI) is a genetically heterogeneous disease characterized by excessive insulin secretion and increased serum insulin concentration, leading to intractable, persistent hypoglycemia. Glutamate dehydrogenase hyperinsulinism (GDH-HI) is the second most common type of CHI, caused by mutations in the glutamate dehydrogenase 1 gene. This review aims to summarize the genetic mechanisms, diagnosis, and treatment progress of GDH-HI. Early diagnosis and treatment are crucial in preventing long-term neurological complications in children with GDH-HI.
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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