Glycogen storage disease type VII (GSD-VII), also known as Tarui disease, is an autosomal recessive disorder of glycogen metabolism. GSD-VII is caused by mutations in the PFKM gene, which encodes muscle phosphofructokinase. It is characterized by exercise-induced muscle symptoms such as premature fatigue, painful cramps, and myoglobinuria. Additional symptoms include hemolysis and myogenic hyperuricemia.
