Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia

Abstract

GSD0 is relatively rare in patients presenting with ketotic hypoglycaemia and a normal biochemical profile. Sequencing of the GYS2 gene is more likely to be positive in patients with fasting ketotic hypoglycaemia and concomitant postprandial hyperglycaemia with hyperlactataemia.