A rare genetic disorder characterized by excess glycogen stores in liver and muscles due to a mutation in the gene for the enzyme glucose-6-phosphatase. Also called type I glycogen storage disease.
Von Gierke disease is an inherited disorder caused by an inborn lack of the enzyme glucose-6-phosphatase (G6Pase). G6Pase is critical for its role in the liver’s production of glucose, which the body uses for energy. When G6Pase is missing, glycogen accumulates in the liver, kidneys, and – intestines. Von Gierke disease is one type of glycogen storage disease (GSD); there are about 11 known types altogether. Von Gierke disease may also be referred to as glycogen storage disease la, glycogenosis Type I, and hepatorenal glycogenosis.