Hereditary disorders of red cell enzymes in the Embden-Meyerhof pathway

Abstract

Recent advances about hereditary disorders of red cell enzymes in the Embden-Meyerhof glycolytic pathway and Rapoport-Leubering cycle are discussed with a stress on pyruvate kinase deficiency, because it is the most common and most intensively studied disorder among them. Broad genetic heterogeneity exists in all the known erythroenzymopathies. Recently, the primary structure of normal human red cell phosphoglycerate kinase has been determined and single amino acid substitutions of four mutant phosphoglycerate kinases have been clarified by Yoshida et al. These studies allowed analysis of structure-function relationships at the molecular level to be carried out more precisely than was previously possible. It is the consensus of the investigators working in this field that the pathogenesis in three-quarters of the congenital nonspherocytic hemolytic anemia patients remains unknown even after adequate red cell enzyme studies and isopropanol test for unstable hemoglobin have been done. This simply means that much studies remain to be worked out in this field.