title: Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.
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.
authors: Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India. seemat3030@sify.com
authors: Seema
authors: S
authors: Thakur
authors: Sarah E
authors: SE
authors: Flanagan
authors: Sian
authors: S
authors: Ellard
authors: I C
authors: IC
authors: Verma
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D002675:Child, Preschool; D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064233:Sulfonylurea Receptors
chemical_list: C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors