Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Sarah M Leiter, Victoria ER Parker, Alena Welters, Rachel Knox, Nuno Rocha, Graeme Clark, Felicity Payne, Luca Lotta, Julie Harris, Julio Guerrero-Fernández, Isabel González-Casado, Sixto García-Miñaur, Gema Gordo, Nicholas Wareham, Víctor Martínez-Glez, Michael Allison, Stephen O'Rahilly, Maria Barroso, Thomas Meissner, Susan Davies, Khalid Hussain, Karen Temple, Ana-Coral Barreda-Bonis, Sebastian Kummer & Robert Semple
OBJECTIVE: Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), upstream from AKT2 in insulin signalling, are known to cause segmental overgrowth, but the metabolic consequences have not been systematically reported. We assess the metabolic phenotype of 22 patients with mosaic activating mutations affecting PI3K, thereby providing new insight into the metabolic function of this complex node in insulin signal transduction....

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