title: Red cell enzymopathies of the glycolytic pathway.
abstract: The delineation of specific erythrocyte glycolytic enzyme defects during the past three decades has clarified hitherto unexplained hereditary hemolytic syndromes. The glycolytic enzymopathies have proven to be important, not as a public health problem, but because the investigation of these experimental models of nature has provided information to increase our understanding of control of glycolysis and interrelationships of the Rapoport-Luebering shunt, mechanism of hemolysis, erythrocyte ageing, role of isozymes in various organs, and genetic control of enzyme structure/function. The application of ever improving techniques of recombinant DNA should yield a bonanza of new information to improve our comprehension of the pathogenesis and heterogeneity of these disorders as well as provide increased knowledge of regulation of these enzymes. It should be an exciting era.
authors.affiliation: Department of Medicine, Harbor-UCLA Medical Center, UCLA School of Medicine, Torrance 90509.
authors.forename: K R
authors.initials: KR
authors.lastname: Tanaka
authors.forename: C R
authors.initials: CR
authors.lastname: Zerez
mesh_terms: D001731:Bisphosphoglycerate Mutase / Q000172:deficiency; D004912:Erythrocytes / Q000201:enzymology*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D006019:Glycolysis / Q000502:physiology*; D006593:Hexokinase / Q000172:deficiency; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency; D010732:Phosphofructokinase-1 / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D010751:Phosphopyruvate Hydratase / Q000172:deficiency; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency; D011770:Pyruvate Kinase / Q000172:deficiency; D014305:Triose-Phosphate Isomerase / Q000172:deficiency
chemical_list: D007770:L-Lactate Dehydrogenase; D006593:Hexokinase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase; D010744:Phosphoric Monoester Hydrolases; D005634:Fructose-Bisphosphate Aldolase; D010751:Phosphopyruvate Hydratase; D014305:Triose-Phosphate Isomerase; D001731:Bisphosphoglycerate Mutase