glycogen storage disease VII

A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phospho

A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Increased total bilirubin
• Reduced muscle 6-phosphofructokinase activity
• Exercise-induced muscle fatigue
• Easy fatigability
• Increased muscle glycogen content
• Exercise-induced myoglobinuria
• Exercise-induced muscle stiffness
• Exercise intolerance
• Reticulocytosis

Also known as: Glycogen storage disease 7; Glycogen storage disease, type VII; Muscle phosphofructokinase deficiency; glycogen storage disease type VII; phosphofructokinase myopathy