Phosphofructokinase deficiency

Phosphofructokinase deficiency is a rare muscular metabolic disorder with an autosomal recessive inheritance pattern, caused by a deficiency of the phosphofructokinase enzyme. The condition results from genetic mutations that impair phosphofructokinase production, which blocks the glycolytic pathway and prevents the formation of ATP that muscles need for energy. Patients typically experience muscle pain, exercise intolerance and hemolytic anemia. Additional manifestations include muscle cramps, weakness, myoglobinuria, dark urine, nausea and a jaundiced appearance, with the severity and exact combination of symptoms depending on the form of the disease. Because the enzyme deficiency affects both muscle energy metabolism and red blood cell function, the disorder is also known as glycogen storage disease type VII, and it sits among a family of related glycolytic enzyme defects that present with similar exercise intolerance and metabolic myopathy features.