Hereditary hemolytic anemia pyruvate kinase deficiency

BS. Baronciani, L., and Beutler, E Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. J. Clin. Invest. 95, 1702-1709 (1995). 

A different problem results from deficiency of enzymes of glycolysis such as phosphofructokinase (see Box 20-D), phosphoglycerate rnutase, and pyruvate kinase. Lack of one isoenzyme of phosphoglycerate rnutase in muscle leads to intolerance to strenuous exercise/ A deficiency in pyruvate kinase is one of the most common defects of glycolysis in erythrocytes and leads to a shortened erythrocyte lifetime and hereditary hemolytic anemia.s... 

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