Hyperinsulinism: molecular aetiology of focal disease
F Ryan, D Devaney, C Joyce, A Nestorowicz… - Archives of Disease in …, 1998 - adc.bmj.com
Archives of Disease in Childhood, 1998•adc.bmj.com
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.
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.
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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