Hyperinsulinism: molecular aetiology of focal disease
- 1 November 1998
- journal article
- case report
- Published by BMJ in Archives of Disease in Childhood
- Vol. 79 (5) , 445-447
- https://doi.org/10.1136/adc.79.5.445
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.Keywords
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