Autosomal dominant hyperinsulinism due to SUR1 deficiency

What is Autosomal dominant hyperinsulinism due to SUR1 deficiency?

A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.

Other condition names

  • Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Inheritance type

Autosomal dominant

Age of Onset

  • Infancy
  • Neonatal
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