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Article

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.

Diabetes - 1 Jun 2011

Macmullen Courtney M, Zhou Qing, Snider Kara E, Tewson Paul H, Becker Susan A, Aziz Ali Rahim, Ganguly Arupa, Shyng Show-Ling, Stanley Charles A

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinemic hypoglycemia is a group of genetic disorders of insulin secretion most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (SUR1) and KCNJ11 (Kir6.2). Recessive mutations of these genes cause hyperinsulinism that is unresponsive to treatment with diazoxide, a channel agonist. Dominant K(ATP) mutations have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

Share to Potassium Channels, Inwardly Rectifying

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Source

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Identifiers

PMID: 21536946
DOI: 10.2337/db10-1631
PMCID: PMC3114386

Genes

ABCC8
KCNJ11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.PMID 21536946Read ↗

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