Hyperinsulinism: molecular aetiology of focal disease

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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.(Arch Dis Child 1998;79:445-447)

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