1. [Fasting hyperglycaemia and polymorphism in glucokinase promoter (rs1799884)].
- Author
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Bahíllo Curieses P, Hermoso López F, Garrote Molpeceres R, Zurita Muñoz O, and Campos Barros A
- Subjects
- Child, Fasting, Humans, Male, Glucokinase genetics, Hyperglycemia genetics, Mutation, Polymorphism, Genetic
- 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., (Copyright © 2011 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)
- Published
- 2011
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