title: Hyperinsulinism: molecular aetiology of focal disease.
abstract: Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
authors: Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors: F
authors: F
authors: Ryan
authors: D
authors: D
authors: Devaney
authors: C
authors: C
authors: Joyce
authors: A
authors: A
authors: Nestorowicz
authors: M A
authors: MA
authors: Permutt
authors: B
authors: B
authors: Glaser
authors: D E
authors: DE
authors: Barton
authors: P S
authors: PS
authors: Thornton
mesh_terms: D018528:ATP-Binding Cassette Transporters; D007516:Adenoma, Islet Cell / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D018095:Germ-Line Mutation; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics*; D007223:Infant; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D008297:Male; D010190:Pancreatic Neoplasms / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug / Q000235:genetics*; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors
chemical_list: C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D007328:Insulin; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors