Referenced in: none

Automatically associated channels: Kir6.2

Title: Persistent hyperinsulinemic hypoglycemia of infancy.

Authors: M Michael Cohen

Journal, date & volume: Am. J. Med. Genet. A, 2003 Nov 1 , 122A, 351-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/14518075

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.