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Article

Heterogeneity in disease severity in a family with a novel G68V <i>GCK</i> activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy

1 Nov 2007

Abstract excerpt

BACKGROUND/AIM: Glucokinase (GCK)-activating mutations cause persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). GCK-PHHI patients have regulated insulin secretion and can usually be treated with diazoxide. The six reported cases suggest that the severity of the mutation predicts the clinical phenotype. The aim of this study was to relate genotype to phenotype [clinical phenotype, glucose-stimulated...

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PMID: 17976205
DOI: 10.1111/j.1464-5491.2007.02285.x

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