Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

doi:10.1210/jc.2004-1233

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Article

Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

The Journal of clinical endocrinology and metabolism - 1 Dec 2004

Tornovsky Sharona, Crane Ana, Cosgrove Karen E, Hussain Khalid, Lavie Judith, Heyman Ma'ayan, Nesher Yaron, Kuchinski Na'ama, Ben-Shushan Etti, Shatz Olga, Nahari Efrat, Potikha Tamara, Zangen David, Tenenbaum-Rakover Yardena, de Vries Liat, Argente Jesús, Gracia Ricardo, Landau Heddy, Eliakim Alon, Lindley Keith, Dunne Mark J, Aguilar-Bryan Lydia, Glaser Benjamin

Abstract excerpt

Hyperinsulinism of infancy is a genetically heterogeneous disease characterized by dysregulation of insulin secretion resulting in severe hypoglycemia. To date, mutations in five different genes, the sulfonylurea receptor (SUR1, ABCC8), the inward rectifying potassium channel (K(IR)6.2, KCNJ11), glucokinase (GCK), glutamate dehydrogenase (GLUD1), and short-chain 3-hydroxyacyl-coenzyme A dehydrogenase (SCHAD),...

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Identifiers

PMID: 15579781
DOI: 10.1210/jc.2004-1233

Genes

ABCC8
KCNJ11
GCK
GLUD1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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