Title

Title

Document Type

Article

Rights

This item is available under a Creative Commons License for non-commercial use only

Disciplines

Genetics and heredity, Biology

Publication Details

Archives of Disease in Childhood 1998, Vol 79 pp445-447 doi: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-1mutation 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.