Summary
A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos.
The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.
This is a preview of subscription content, log in via an institution to check access.
References
Beutler, E., Yoshida, A.: Human glucose-6-phosphate dehydrogenase variants: A supplementary tabulation. Ann. Hum. Genet. 37, 151–155 (1973)
Goetz, O., Müller-Elbracht, H. J.: Paroxysmal nocturnal hemoglobinuria: Role of the C3 activator system. New Engl. J. Med. 286, 180–184 (1972)
Kahn, A., Cottreau, D., Boivin, P.: Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency. Humangenetik 25, 101–109 (1974)
Kahn, A., Hakim, J., Cottreau, D., Boivin, P.: Gd(-) Matam, an african G6PD variant with enzyme deficiency. Biochemical and immunological properties in various hemopoitic tissues. Clin. Chim. Acta 59, 183–190 (1975)
Kahn, A., Esters, A., Habedank, M.: Gd(-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical genetic and biological aspects. Hum. Genet. 32, 171–180 (1976a)
Kahn, A., Cottreau, D., Galand, C., Boivin, P.: Human erythrocyte phosphoglycerate kinase deficiency: Presence in a deficient patient of a stable variant with lowered catalytic activity. Clin. chim. Acta 69, 21–28 (1976b)
Kahn, A., Vives-Corrons, J. C., Marie, J., Galand, C., Boivin, P.: A Spanish family with erythrocyte pyruvate kinase deficiency: Contribution of various immunologic methods in the study of the mutant enzyme. Clin. Chim. Acta 75, 71–80 (1977)
Kahn, A.: G6PD variants. Hum. Genet. (in press, 1978)
Levine, L., Van Vunakis, H.: Microcomplement fixation. Methods Enzymol. 11, 928–936 (1967)
Marie, J., Kahn, A., Boivin, P.: Human erythrocyte pyruvate kinase: Total purification and evidence for its antigenic identity with L-type enzyme. Biochim. Biophys. Acta 481, 96–104 (1977a)
Marie, J., Vives-Corrons, J. L., Kahn, A.: Hereditary erythrocyte pyruvate kinase deficiency: Molecular and functional studies of four mutant PK variants detected in Spain. Clin. Chim. Acta 81, 153–162 (1977b)
May, J. E., Rosse, W., Frank, M. M.: Paroxysmal nocturnal hemoglobinuria. Lysis induced by magnesium. New Engl. J. Med. 289, 705–708 (1973)
Piomelli, S., Corash, L. M., Davenport, D. D., Miraglia, J., Amorosi, E. L.: In vivo lability of glucose-6-phosphate dehydrogenase in GdA- and Gd Mediterranean deficiency. J. Clin. Invest. 47, 940–947 (1968)
Rosa, R., Alexandre, Y., Kaplan, J. C., Dreyfus, J. C.: Comportement immunologique de la glucose 6 phosphate déshydrogénase érythrocytaire chez des mutants déficients. Clin. Chim. Acta 29, 209–214 (1970)
Tilley, B. E., Gracy, R. W., Welsh, S. G.: A point mutation increasing the stability of human phosphoglucose isomerase. J. Biol. Chem. 249, 4571–4579 (1974)
WHO: Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. WHO Tech. Rep. Ser. No. 366, 1 (1967)
Yoshida, A., Beutler, E., Motulsky, A. G.: Table of human glucose-6-phosphate dehydrogenase variants. Bull. WHO 45, 243–253 (1971)
Yoshida, A.: Hemolytic anemia and G-6PD deficiency. Science 179, 532–537 (1973)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Kahn, A., North, M.L., Cottreau, D. et al. G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability. Hum Genet 43, 85–89 (1978). https://doi.org/10.1007/BF00396482
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00396482