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

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 clini...

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Veröffentlicht in:	Diabetic medicine 2007-12, Vol.24 (12), p.1393-1399
Hauptverfasser:	Wabitsch, M., Lahr, G., Van de Bunt, M., Marchant, C., Lindner, M., Von Puttkamer, J., Fenneberg, A., Debatin, K. M., Klein, R., Ellard, S., Clark, A., Gloyn, A. L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biological and medical sciences Blood Glucose - analysis Child Congenital Hyperinsulinism - genetics Congenital Hyperinsulinism - metabolism diazoxide Endocrinopathies Family Health Feeding. Feeding behavior Female Fundamental and applied biological sciences. Psychology genetics glucokinase Glucokinase - genetics Glucose Tolerance Test Humans Islets of Langerhans - enzymology Islets of Langerhans - pathology KATP Channels - genetics Male Medical sciences Middle Aged Mutation, Missense octreotide Pedigree persistent hyperinsulinaemic hypoglycaemia of infancy Vertebrates: anatomy and physiology, studies on body, several organs or systems Vertebrates: endocrinology
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