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Logo of archdischArchives of Disease in ChildhoodInstructions for authorsCurrent TOC
Arch Dis Child. Nov 1998; 79(5): 445–447.
PMCID: PMC1717743
Hyperinsulinism: molecular aetiology of focal disease
F Ryan, D Devaney, C Joyce, A Nestorowicz, M Permutt, B Glaser, D Barton, and P Thornton
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
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.

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