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Article

Compound heterozygosity for the common sulfonylurea receptor mutations can cause mild diazoxide-sensitive hyperinsulinism.

Clinical pediatrics - 1 Apr 2002

Dekel Benjamin, Lubin Daniel, Modan-Moses Dalit, Quint Jacob, Glaser Benjamin, Meyerovitch Joseph

Abstract excerpt

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a disorder characterized by dysregulation of insulin secretion and prolonged hypoglycemia. Mutations in the genes of both subunits of the beta-cell KATP channel, Kir 6.2 (potassium channel) and SUR1 (sulfonylurea receptor) have been associated with the autosomal recessive form of this disorder. It was previously demonstrated that patients harboring...

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Share to Diazoxide
Share to Electrophoresis, Gel, Two-Dimensional

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperinsulinism

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Sulfonylurea Receptors

Share to Vasodilator Agents

Source

Identifiers

PMID: 11999683
DOI: 10.1177/000992280204100310

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