Pyruvate Kinase Deficiency

Abstract

Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. This disorder is characterized by clinical heterogeneity. Heterogeneity results in a variable degree of hemolysis, causing irreversible cellular disruption. Invariably, PKD results in hereditary non-spherocytic anemia. Manifestations occur from the neonatal period through adult life. A myriad of complications could arise from hemolytic anemia.