Summary
A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.
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Elizondo, J., Sáenz, G.F., Páez, C.A. et al. G6PD-Puerto Limón: A new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia. Hum Genet 62, 110–112 (1982). https://doi.org/10.1007/BF00282295
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DOI: https://doi.org/10.1007/BF00282295