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Embden-Meyerhof
pathway defects are autosomal recessive RBC metabolic disorders
that produce hemolytic anemia.
Pyruvate kinase deficiency is one such enzyme defect. In all of these pathway defects, hemolytic anemia occurs only in homozygotes, and the exact mechanism of hemolysis is unknown. Spherocytes are absent, but small numbers of irregularly shaped spheres may be present. In general, assays of ATP and diphosphoglycerate help identify any metabolic defect and localize the defective sites for further analysis. No specific therapy exists for these hemolytic anemias, although most require no treatment other than supplemental folate (1 mg po once/day) during acute hemolysis. Hemolysis and anemia persist after splenectomy, although some improvement may occur, particularly with pyruvate kinase deficiency.
Last full review/revision February 2009 by Alan E. Lichtin, MD
Content last modified February 2009
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