The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism

Abstract excerpt

Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects. The genetic and molecular causes of CHI include defects in pivotal pathways regulating the secretion of insulin from the β-cell....

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