Pyruvate Kinase Deficiency

In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.


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.

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  • Study Guide