Article
Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.
Diabetes - 1 Sept 2003
Gloyn Anna L, Noordam Kees, Willemsen Michèl A A P, Ellard Sian, Lam Wayne W K, Campbell Ian W, Midgley Paula, Shiota Chyio, Buettger Carol, Magnuson Mark A, Matschinsky Franz M, Hattersley Andrew T
Abstract excerpt
Glucokinase (GCK) is a key regulatory enzyme in the pancreatic beta-cell and catalyzes the rate-limiting step for beta-cell glucose metabolism. We report two novel GCK mutations (T65I and W99R) that have arisen de novo in two families with familial hypoglycemia. Insulin levels, although inappropriately high for the degree of hypoglycemia, remain regulated by fluctuations in glycemia, and pancreatic histology was...
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