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. © 2010 Asociación Española de Pediatría. Publicado por Elsevier España, S.L. Todos los derechos reservados.
CITATION STYLE
Bahíllo Curieses, P., Hermoso López, F., Garrote Molpeceres, R., Zurita Muñoz, O., & Campos Barros, A. (2011). Hiperglucemia en ayunas y polimorfismo en el promotor de la glucoquinasa (rs1799884). Anales de Pediatria, 75(4), 273–276. https://doi.org/10.1016/j.anpedi.2011.05.009
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