The genetic basis of congenital hyperinsulinism.

Abstract excerpt

Congenital hyperinsulinism (CHI) is biochemically characterised by the dysregulated secretion of insulin from pancreatic beta-cells. It is a major cause of persistent hyperinsulinaemic hypoglycaemia (HH) in the newborn and infancy period. Genetically CHI is a heterogeneous condition with mutations in seven different genes described. The genetic basis of CHI involves defects in key genes which regulate insulin...

Topics

Join the communities discussing this publication.

• Sulfonylurea Receptors
• Receptors, Drug
• ATP-Binding Cassette Transporters
• Congenital Hyperinsulinism
• Genetic Heterogeneity