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Neonatal hyperinsulinism is caused by either diffuse β cell hyperplasia (nesidioblastosis) or focal adenomatous islet cell hyperplasia. The former condition has several known causes such as mutation of the sulphonylurea receptor gene or of the potassium channel gene (KIR 6.2), both recessively inherited, or of the glucokinase and other genes (dominant). A mutation of the glutamate dehydrogenase gene causes both hyperinsulinism and hyperammonaemia. Focal adenomatous islet cell hyperplasia is an example of genetic imprinting and is associated with loss of the maternal copy of the sulphonylurea receptor type 1 gene on …
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