Embden-Meyerhof pathway defects are autosomal recessive RBC metabolic disorders that cause 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. There is no specific therapy for these hemolytic anemias, although most patients 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 in patients with pyruvate kinase deficiency.
Last full review/revision October 2013 by Alan E. Lichtin, MD
Content last modified November 2013