Persistent hyperinsulinemic hypoglycemia of infancy

Am J Med Genet A. 2003 Nov 1;122A(4):351-3. doi: 10.1002/ajmg.a.20480.

Abstract

In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of beta-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.

Publication types

  • Review

MeSH terms

  • ATP-Binding Cassette Transporters
  • Congenital Hyperinsulinism / genetics*
  • Congenital Hyperinsulinism / physiopathology
  • Humans
  • Mutation
  • Potassium Channels / chemistry
  • Potassium Channels / genetics
  • Potassium Channels / metabolism
  • Potassium Channels, Inwardly Rectifying / genetics
  • Potassium Channels, Inwardly Rectifying / metabolism
  • Receptors, Drug
  • Sulfonylurea Receptors

Substances

  • ABCC8 protein, human
  • ATP-Binding Cassette Transporters
  • Potassium Channels
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors