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Article

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

Diabetes - 1 Feb 1999

Otonkoski T, Ammälä C, Huopio H, Cote G J, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft F M, Dunne M J, Kere J, Thomas P M

Abstract excerpt

Mutations in genes encoding the ATP-regulated potassium (K(ATP)) channels of the pancreatic beta-cell (SUR1 and Kir6.2) are the major known cause of persistent hyperinsulinemic hypoglycemia of infancy (PHHI). We collected all cases of PHHI diagnosed in Finland between 1983 and 1997 (n = 24). The overall incidence was 1:40,400, but in one area of Central Finland it was as high as 1:3,200. Haplotype analysis using...

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Identifiers

PMID: 10334322
DOI: 10.2337/diabetes.48.2.408

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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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