In this genetic deficiency, the enzyme PK is deficient in RBCs. The clinical expression, which is variable in its severity, requires that both chromosomes carry the defect. Carriers can be recognized by the fact that their erythrocytes contain about half the normal PK activity. The diagnostic significance of elevated serum PK levels has not been determined. Many disease states associated with anemias show elevated RBC PK levels.
Erythrocyte pyruvate kinase deficiency resulting in congenital non-spherocytic hemolytic anemia.
Tanaka KB, et al.