Summary
A new case of a defect in red cell pyrimidine 5′-nucleotidase (P5N) activity was found in a large family from Guadeloupe in the West Indies. The propositus presented a characteristic hemolytic anemia with red cell basophilic stippling, an increased GSH level, and a shift of the peak in absorbance of nucleotide. The enzyme activity of the deficient red cells was about 14% that of normal. The electrophoretic pattern of P5N activity from the deficient red cells differed from that of the normal. The P5N activity of the deficient red cells was distinct from that of the control in terms of its Km and of the effects of pH on its maximum activity and heat stability. The significance of such differences is discussed.
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Ben Bassat, I., Brok-Simoni, F., Kende, G., Holtzman, F., Ramot, B.: A family with red cell pyrimidine 5′-nucleotidase deficiency. Blood 47, 919–922 (1976)
Beutler, E.: Red Cell Metabolism. A manual of Biochemical Methods. New York: Grune and Stratton 1971
Crawhall, J. C., Banfalvi, M.: Fabry's disease: differenciation between two forms of α-galactosidase by myo-inositol. Science 177, 527–528 (1972)
Fiske, Ch., Subbarow, Y.: The colorimetric determination of phosphorus. J. Biol. Chem. 66, 375–400 (1925)
Paglia, D. E., Valentine, W. N.: Charateristics of a pyrimidine 5′-nucleotidase in human erythrocytes. J. Biol. Chem. 250, 7973–7979 (1975)
Rochant, H., Dreyfus, B., Rosa, R., Boiron, M.: First case of pyrimidine 5′-nucleotidase deficiency in a male. International Society of Haematology, European and African Third Meeting. London, August 24–28, 1975. Abstract I, 19
Rosa, R.: Valentin, C., Rosa, J.: Electrophoretic characterization of pyrimidine 5′-nucleotidase from mammalian erythrocytes and its distinction from other phosphatases. Clin. Chim. Acta 79, 115–118 (1977)
Valentine, W. N., Fink, K., Paglia, D. E., Harris, S. R., Adams, W. S.: Hereditary hemolytic anemia with human erythrocyte pyrimidine 5′-nucleotidase deficiency. J. Clin. Invest. 54, 866–879 (1974)
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Rosa, R., Rochant, H., Dreyfus, B. et al. Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5′-nucleotidase. Hum Genet 38, 209–215 (1977). https://doi.org/10.1007/BF00527404
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DOI: https://doi.org/10.1007/BF00527404