Glycogen storage disease type Ia (GSDIa; OMIM#232200), also known as von Gierke disease, is an inborn error of carbohydrate metabolism caused by bi-allelic pathogenic variants in the glucose-6-phosphatase gene (G6PC; OMIM*613742), which accounts for 80% of cases of type I glycogen storage disease [1]. Here, G6PC1 is linked to glycogen storage disease I.