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.
Publication types
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Case Reports
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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ATP-Binding Cassette Transporters*
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Adenoma, Islet Cell / genetics
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Chromosomes, Human, Pair 11
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Germ-Line Mutation*
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Humans
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Hyperinsulinism / genetics*
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Infant
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Insulin / metabolism
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Insulin Secretion
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Male
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Pancreatic Neoplasms / genetics
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Potassium Channels / genetics*
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Potassium Channels, Inwardly Rectifying*
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Receptors, Drug / genetics*
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Sulfonylurea Compounds*
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Sulfonylurea Receptors
Substances
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ABCC8 protein, human
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ATP-Binding Cassette Transporters
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Insulin
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Potassium Channels
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Potassium Channels, Inwardly Rectifying
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Receptors, Drug
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Sulfonylurea Compounds
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Sulfonylurea Receptors