Glycogen storage disease type VII (GSDVII) is an autosomal recessive disorder caused by a mutation in the PFKM gene. It occurs due to the inability to break down glycogen in muscle cells. There are four different types of GSDVII. The classical form of the disease is the most common one and is characterized by muscle pain and cramps, exercise intolerance, renal failure caused by myoglobin accumulation in the kidney, and jaundice. Affected patients have high level of bilirubin and creatine kinase in blood. Patients with the infantile form have severe hypotonia and cardiomyopathy. The only manifestation for the late-onset form of GSDVII is myopathy. The hemolytic form is characterized by hemolytic anemia and does not show signs of muscle problems. More than 100 cases of GSD VII have been described in the literature.