Novel genetic form of childhood hypoglycaemia Identified

Research at the University of Cambridge and the Sanger Institute in the UK has identified an activating mutation in the insulin signalling molecule AKT2 as the cause of a syndrome of severe hypoglycaemia with suppressed ketones, normal free fatty acids, and undetectable insulin (Science 334 p.474. DOI: 10.1126/science.1210878). The three patients studied also had some degree of left sided hemihypertrophy.

This finding immediately suggests novel therapies that are currently being investigated. It is believed that this disorder is underdiagnosed, and the investigators welcome referral of potential new cases to establish the spectrum of disease and design optimal treatment strategies (please contact Dr Robert Semple: [email protected] or Dr Khalid Hussain: [email protected]).