Ontology highlight
ABSTRACT:
SUBMITTER: Park JS
PROVIDER: S-EPMC5177692 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Park Ji Sook JS Lee Hong-Jun HJ Park Chan-Hoo CH
Korean journal of pediatrics 20161130 Suppl 1
Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the <i>ABCC8</i> or <i>KCNJ11</i> genes, which encode the sulfonylurea receptor 1 and the inward rectifying potassium channel (Kir6.2) subunit of the ATP-sen ...[more]