Glycogen storage disease type 1a (GSD-1a) is an autosomal recessive disorder caused by mutations in glucose-6-phosphatase-α (G6Pase-α; encoded by G6PC), an enzyme expressed primarily in gluconeogenic organs, such as the liver, kidney and intestine, where it catalyzes the hydrolysis of glucose-6-phosphate (G6P) to glucose in the terminal step of glycogenolysis and gluconeogenesis (Chou et al., 2010). This evidence concerns the gene G6PC1 and disorder of glycogen metabolism.