Summary
A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.
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Arnold, H., Blume, K. G., Busch, D., Lenkeit, U., Löhr, G. W., Lübs, E.: Klinische und biochemische Untersuchungen zur Glucosephosphatisomerase normaler menschlicher Erythrocyten und bei Glucosephosphatisomerase-Mangel. Klin. Wschr. 48, 1299 (1970)
Baughan, M. A., Valentine, W. N., Paglia, D. E., Ways, P. O., Simons, E. R., De Marsh, G. B.: Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency — A new enzyme defect of human erythrocytes. Blood 32, 236–249 (1968)
Blume, K. G., Hryniutz, W., Powars, D., Trinidad, F., West, C., Beutler, E.: Characterisation of two variants of glucosephosphate isomerase deficiency with hereditary nonspherocytic anemia. J. Lab. clin. Med. 79, 942–949 (1972)
Cartier, P., Temkine, H., Gricelli, C.: Etude biochimique d'une anémie hémolytique avec déficit familial en phosphohexo-isomérase. In: 7th int. Congr. Clin. Chem. Geneva-Evian 1969. Clinical Enzymology (eds. J. Frei, M. Jemelin), Vol. 2, pp. 139–143. Basel: Karger 1970
Engelhardt, R., Arnold, H., Hoffmann, A., Jacobi, H., Löhr, G. W.: GPI-Recklinghausen: A variant of glucosephosphate isomerase. Deficiency with hemolytic anemia. In: Erythrocytes, thrombocytes, leucocytes. Recent advances in membrane and metabolic research (eds. E. Gerlach, K. Moser, E. Deutsch), pp. 180–182. Stuttgart: Georg Thieme 1973
Meera Khan, P., Ratazzi, M. C.: Rapid detection of 6-phosphogluconate dehydrogenase variants by electrophoresis on cellulose-acetate gel. Biochem. Genet. 2, 231–235 (1968)
Nakashima, K., Miwa, S., Oda, S., Oda, E., Matsumoto, N., Jukumoto, Y., Yamada, T.: Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency. Amer. J. hum. Genet. 25, 294–301 (1973)
Paglia, D. E., Paredes, R., Valentine, W. N., Dorantes, S., Konrad, P. N.: Unique phenotypic expression of glucosephosphate isomerase deficiency. Amer. J. hum. Genet. 27, 62–70 (1975)
Paglia, D. E., Valentine, W. N.: Hereditary glucosephosphate isomerase deficiency. Amer. J. clin. Path. 62, 740–751 (1974)
Schröter, W., Koch, H. J., Wonneberger, B., Kalinowsky, W., Arnold, H., Blume, K. G., Hüther, W.: Glucosephosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia: a new variant (type Nordhorn). I. Clinical and genetic studies. Pediat. Res. 18, 18–25 (1974)
Slein, M. W.: Phosphohexose isomerases from muscle. In: Methods in enzymology (eds. S. P. Colowick, N. O. Kaplan), I, p. 299. New York: Academic Press 1955
Van Biervliet, J. P. G. M., van Milligen-Boersma, L., Staal, G. E. J.: A new variant of glucosephosphate isomerase deficiency. Clin. chim. Acta (in press)
Welch, S. G.: Qualitative and quantitative variants of human phosphoglucose isomerase. Hum. Hered. 21, 467–477 (1971)
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Van Biervliet, J.P., Vlug, A., Bartstra, H. et al. A new variant of glucosephosphate isomerase deficiency. Humangenetik 30, 35–40 (1975). https://doi.org/10.1007/BF00273629
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DOI: https://doi.org/10.1007/BF00273629