The body breaks down muscle (rhabdomyolysis) when trying to attain energy, which causes symptoms such as muscle pain, cramping, fatigue and tenderness. The red protein myoglobin is released and red-brown urine may be seen.
Diagnosis is by muscle biopsy, which will show a deficiency of muscle phosphofructokinase and a modest accumulation of glycogen. Patients may also display a hemolytic anemia. Treatment primarily consists of avoiding strenuous exercise. Some patients have been helped by a high protein diet. The enzyme deficiency is due to abnormalities in the muscle phosphofructokinase gene and is inherited as an autosomal recessive genetic disorder.