Hyperinsulinism: molecular aetiology of focal disease.
case_report · Level V
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- Record sourced from PubMed, PMID 10193261.
- Also identified by PMC identifier 1717743.
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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.
Medical subject headings
- ATP-Binding Cassette Transporters
- Germ-Line Mutation
- Hyperinsulinism
- Potassium Channels
- Potassium Channels, Inwardly Rectifying
- Receptors, Drug
- Sulfonylurea Compounds