title: Familial hyperinsulinism and pancreatic beta-cell ATP-sensitive potassium channels.
abstract: Familial hyperinsulinism, also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI), is a genetic disease characterized by mild to severe hypoglycemia in the presence of inappropriately high levels of insulin. The recessive form is caused by mutations in the adenosine 5'-triphosphate (ATP)-sensitive K+ channel (KATP channel) present in the plasma membrane of pancreatic beta-cells. This channel is formed by two subunits, the high-affinity sulfonylurea receptor, SUR1, and KIR6.2, a member of the inwardly rectifying family of K+ channels. KATP channels regulate insulin secretion by linking membrane excitability with glucose metabolism. Approximately 50 mutations, in both channel subunits, that abolish or alter the regulation of beta-cell KATP channels have been identified in patients with the recessive form of PHHI.
authors.affiliation: Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: N
authors.initials: N
authors.lastname: Sharma
authors.forename: A
authors.initials: A
authors.lastname: Crane
authors.forename: G
authors.initials: G
authors.lastname: Gonzalez
authors.forename: J
authors.initials: J
authors.lastname: Bryan
authors.forename: L
authors.initials: L
authors.lastname: Aguilar-Bryan
mesh_terms: D000255:Adenosine Triphosphate / Q000502:physiology*; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics* / Q000378:metabolism*; D007515:Islets of Langerhans / Q000378:metabolism*; D009154:Mutation / Q000502:physiology; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism*
chemical_list: D015221:Potassium Channels; D000255:Adenosine Triphosphate