Summary
Anomalies of the mutant pyruvate kinase variants and clinical symptoms have been compared in 22 unrelated patients with congenital red cell pyruvate kinase deficiency. This study suggests that some characteristics of the mutant enzymes could play a role in the intensity of haemolysis, namely residual activity, affinity for the substrate phosphoenolpyruvate and for the allosteric activator fructose 1,6 diphosphate and inhibition by ATP.
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References
Arnold H, Blume KG, Engelhardt R, Löhr GW (1973) Glucose phosphate isomerase deficiency; evidence for in vivo instability of an enzyme variant with hemolysis. Blood 41:691–699
Boivin P (1971) In: Gaidos A (ed) Les enzymopathies. Tome 1. Déficit en pyruvate kinase. Masson, Paris, p 190
Boivin P, Galand C, Demartial MC (1972) Etudes sur la pyruvate kinase erythrocytaire. II. Hétérogénéité enzymologique des déficits. Etude à propos de 28 cas avec anémie hémolytique congénitale. Nouv Rev Fr Hematol Blood Cells 12:569–594
Buc HA, Leroux JP, Garreau H, Marchand JC, Cartier P (1974) Metabolic regulation in enzyme-deficient red cells. Enzyme 18: 19–36
Guminska M, Wazewska-Czykewska M (1979) Congenital non-spherocytic haemolytic anaemia variants with primary and secondary pyruvate kinase deficiency. II. Enzymatic studies. Br J Haematol 41:125–132
International Committee for Standardization in Haematology (1979) Recommended methods for characterization of red cell pyruvate kinase variants. Br J Haematol 43:275–286
Kahn A (1978) G-6PD variants. Hum Genet Suppl 1:37–44
Kahn A, Vives-Corrons JL, Marie J, Galand C, Boivin P (1977) A Spanish family with erythrocyte pyruvate kinase deficiency: contribution of various immunologic method in the study of the mutant enzyme. Clin Chim Acta 75:71–80
Kahn A, Kaplan JC, Dreyfus JC (1979) Advances in hereditary red cell enzyme anomalies. Hum Genet 50:1–27
Marie J, Vives-Corrons JL, Kahn A (1977) Hereditary erythrocyte pyruvate kinase deficiency: molecular and functional studies of four mutant PK variants detected in Spain. Clin Chim Acta 81:153–162
Marie J, Zanella A, Vives-Corrons JL, Najman A, Kahn A (1979) Significance of the electrophoretic modifications of defective pyruvate kinase variants. Study of six new observations. Clin Chim Acta 93:61–69
Miwa S, Nishina T (1974) Studies on pyruvate kinase (PK) deficiency. I. Clinical, hematological and erythrocyte enzyme studies. Acta Haematol Jpn 37:1–16
Nakaskima K, Miwa S, Oda S, Tanaka T, Imamura K, Nishima T (1974) Electrophoretic and kinetic studies of mutant erythrocyte pyruvate kinase. Blood 43:537–548
Paglia DE, Valentine WN, Baughan MA, Miller DR, Reed CF, McIntyre OR (1968) An inherited molecular lesion of erythrocyte pyruvate kinase. Identification of a kinetically aberrant isozyme associated with premature hemolysis. J Clin Invest 47:1929–1946
Paglia DE, Valentine WN, Williams KO, Konrad PN (1977) An isozyme of erythrocyte pyruvate kinase (PK-Los Angeles) with impaired kinetics corrected by fructose 1,6 diphosphate. Am J Clin Pathol 68:229–234
Schröter W (1972) Clinical heterogeneity of erythrocyte pyruvate kinase deficiency. Helv Paediatr Acta 27:471–488
Schröter W, Tillmann W (1975) Membrane localized pyruvate kinase of red blood cells in hemolytic anemia associated with pyruvate kinase deficiency. Klin Wochenschr 53:1131–1132
Schröter W, Tillmann W, Sondgen G (1978) Pyruvate kinase-catalyzed ATP formation in human red blood cell membranes. Blut 37:1–6
Van Berkel TJC, Koster JF, Staal GEJ (1973) On the molecular basis of pyruvate kinase deficiency. I. Primary defect or consequence of increased glutathione disulfide concentration. Biochim Biophys Acta 321:496–502
Vives-Corrons JL, Marie J, Pujades MA, Kahn A (1980) Hereditary erythrocyte pyruvate kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients. Hum Genet 53:401–408
Yoshida A (1973) Hemolytic anemia and G6PD deficiency. Science 179: 532–537
Zanella A, Rebulla P, Giovanetti AM, Curzio M, Pescarmona GP, Sirchia G (1976) Effects of sulphydryl compounds in abnormal red cell pyruvate kinase. Br J Haematol 32:373–386
Zuelzer WN, Robinson AR, Hsu THJ (1968) Erythrocyte pyruvate kinase deficiency in non-spherocytic hemolytic anemia: a system of multiple genetic markers. Blood 32:33–48
Zanella A, Rebulla P, Vullo C, Izzo C, Tedesco F, Sirchia G (1978) Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology. Br J Haematol 40:551–562
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Kahn, A., Marie, J., Vives-Corrons, J.L. et al. Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression. Hum Genet 57, 172–175 (1981). https://doi.org/10.1007/BF00282016
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DOI: https://doi.org/10.1007/BF00282016