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Autosomal dominant hyperinsulinism due to SUR1 deficiency

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E16.1
  • OMIM: 256450
  • UMLS: C4274080
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

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