Permanent Neonatal Diabetes Caused by Glucokinase Deficiency
2003; American Diabetes Association; Volume: 52; Issue: 11 Linguagem: Inglês
10.2337/diabetes.52.11.2854
ISSN1939-327X
AutoresPål R. Njølstad, Jørn V. Sagen, Lise Bjørkhaug, Stella Odili, Naim Shehadeh, Doua Bakry, S. Ümit Sarící, Faruk Alpay, Janne Molnes, Anders Molven, Oddmund Søvik, Franz M. Matschinsky,
Tópico(s)Diabetes and associated disorders
ResumoNeonatal diabetes can be either permanent or transient. We have recently shown that permanent neonatal diabetes can result from complete deficiency of glucokinase activity. Here we report three new cases of glucokinase-related permanent neonatal diabetes. The probands had intrauterine growth retardation (birth weight G), which is predicted to lead to the synthesis of an inactive protein. The third subject (second cousin of subject 2) was a compound heterozygote with one allele having the splice-site mutation IVS8 + 2T-->G and the other the missense mutation Gly264Ser (G264S), a mutation with an activity index of 86% of normal activity. The five subjects with permanent neonatal diabetes due to glucokinase deficiency identified to date are characterized by intrauterine growth retardation, permanent insulin-requiring diabetes from the first day of life, and hyperglycemia in both parents. Autosomal recessive inheritance and enzyme deficiency are features typical for an inborn error of metabolism, which occurred in the glucose-insulin signaling pathway in these subjects.
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