title: [Fasting hyperglycaemia and polymorphism in glucokinase promoter (rs1799884)].
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.
authors.affiliation: Departamento de Endocrinología Pediátrica, Hospital Clínico Universitario, Valladolid, España. pilarbahilloc@yahoo.es
authors.forename: P
authors.initials: P
authors.lastname: Bahíllo Curieses
authors.forename: F
authors.initials: F
authors.lastname: Hermoso López
authors.forename: R
authors.initials: R
authors.lastname: Garrote Molpeceres
authors.forename: O
authors.initials: O
authors.lastname: Zurita Muñoz
authors.forename: A
authors.initials: A
authors.lastname: Campos Barros
mesh_terms: D002648:Child; D005215:Fasting; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D006943:Hyperglycemia / Q000235:genetics*; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic
chemical_list: D005941:Glucokinase