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[Fasting hyperglycaemia and polymorphism in glucokinase promoter (rs1799884)]
P Bahíllo Curieses1, F Hermoso López, R Garrote Molpeceres
1Departamento de Endocrinología Pediátrica, Hospital Clínico Universitario, Valladolid, España. pilarbahilloc@yahoo.es
Abstract:
Glucokinase is one of the most important regulators of fasting glucose levels. There are several mutations in the glucokinase gene (GCK) which are linked with monogenic diabetes. Recently, a polymorphism in its promoter has been described, which is associated with impaired fasting glucose levels. We present a 7 years and 7 months old boy with overweight and a familial background of diabetes in two previous generations. In the oral glucose tolerance test, he had impaired fasting glucose levels and after two hours, with a high insulin response. Laboratory abnormalities improved after weight loss, but he maintains a slight fasting hyperglycaemia. The molecular study of the most common monogenic diabetes forms, MODY subtypes 1, 2, and 3, was negative. The allelic variant G/A was however detected at the GCK promoter polymorphism rs1799884.
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