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Autosomal dominant hyperinsulinism due to SUR1 deficiency

What is Autosomal dominant hyperinsulinism due to SUR1 deficiency?

A form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually present a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).

Other condition names

  • Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Inheritance type

Autosomal dominant

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.