Hyperinsulinism: molecular aetiology of focal disease. Issue 5 (1st November 1998)

• Record Type: Journal Article
• Authors: Ryan, F; Devaney, D; Joyce, C; Nestorowicz, A; Permutt, M A; Glaser, B; Barton, D E; Thornton, P S
• Is Part Of: Archives of disease in childhood. Volume 79:Issue 5(1998)
• Page Start: 445
• Page End: 447
• Publication Date: 1998-11-01
• Subjects: hyperinsulinism -- sulphonylurea receptor -- mutational analysis; Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.79.5.445
• Languages: English
• ISSNs: 0003-9888

Abstract

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.