Article
An activating mutation of AKT2 and human hypoglycemia.
Science (New York, N.Y.) - 28 Oct 2011
Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie B J L, Savage D B, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple R K
Abstract excerpt
Pathological fasting hypoglycemia in humans is usually explained by excessive circulating insulin or insulin-like molecules or by inborn errors of metabolism impairing liver glucose production. We studied three unrelated children with unexplained, recurrent, and severe fasting hypoglycemia and asymmetrical growth. All were found to carry the same de novo mutation, p.Glu17Lys, in the serine/threonine kinase AKT2,...
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