Article
Phenotypic Characterization of Congenital Hyperinsulinism Due to Novel Activating Glucokinase Mutations.
Diabetes - 1 Dec 2023
Li Changhong, Juliana Christine A, Yuan Yue, Li Ming, Lu Ming, Chen Pan, Boodhansingh Kara E, Doliba Nicolai M, Bhatti Tricia R, Adzick N Scott, Stanley Charles A, De León Diva D
Abstract excerpt
The importance of glucokinase (GK) in the regulation of insulin secretion has been highlighted by the phenotypes of individuals with activating and inactivating mutations in the glucokinase gene (GCK). Here we report 10 individuals with congenital hyperinsulinism (HI) caused by eight unique activating mutations of GCK. Six are novel and located near previously identified activating mutations sites. The first...
Topics
- Child
- Humans
- Glucokinase
- Glucagon
- Congenital Hyperinsulinism
- Hyperinsulinism
- Glucose
- Mutation
- Phenotype