ABSTRACT
The erythrocyte carries out a number of reactions, related to the generation and utilization of the high-energy compound, adenosine triphosphate (ATP), to withstand the buffeting that it encounters during its 120 day, 300-mile journey through the circulation. The ease with which human erythrocytes can be obtained repeatedly in essentially pure form has made them a fertile field for genetic, molecular biology, and biochemical examinations. Deficiency in Phosphoglycerate Kinase (PGK) activity would be expected to impose a severe metabolic handicap, especially on older erythrocytes, because it serves in the first ATP-generating step of anaerobic glycolysis. The neurologic defect associated with generalized PGK deficiency is the most serious manifestation. In hemizygous males, PGK activity is greatly reduced in the leukocytes, lymphocytes, platelets, and muscle, as well as erythrocytes, of living patients, and in brain, skeletal and cardiac muscle, and liver tissue obtained at autopsy.
