Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene

Indian Pediatr. 2011 Sep;48(9):733-4.

Abstract

Congenital hyperinsulinism is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a 2.5 year old girl with severe congenital hyperinsulinism. Mutation analysis showed that the child is a compound heterozygote for two missense mutations in the ABCC8 gene.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Child, Preschool
  • Congenital Hyperinsulinism / diagnosis
  • Congenital Hyperinsulinism / genetics*
  • Congenital Hyperinsulinism / physiopathology
  • Female
  • Genes, Recessive / genetics
  • Humans
  • Mutation, Missense*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Receptors, Drug / genetics*
  • Sulfonylurea Receptors

Substances

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