Summary
Two new glucose-6-phosphate dehydrogenase (G6PD) variants were discovered in Japan. The first, found in a 9-year-old male, was associated with chronic hemolysis and hemolytic crises after upper respiratory infections. The enzyme activity of the variant was 2.9% of normal. The patient's G6PD showed an increased utilization of substrate analogue, deamino-NADP, and thermal instability. The second variant occurred in a 7-year-old male with druginduced hemolysis. The main enzymatic characteristics were reduced enzyme activity, being 6.4% of normal, faster-thannormal anodal electrophoretic mobility, slightly high Michaelis constant for glucose-6-phosphate, thermal instability, and biphasic pH optima. Enzymatic properties of these variants allowed each to be distinguished from previously reported variants. The first variant was designated Gd (-) Gifu and the other, Gd (-) Fukuoka.
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Fujii, H., Miwa, S., Takegawa, S. et al. Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan. Hum Genet 66, 276–278 (1984). https://doi.org/10.1007/BF00286616
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DOI: https://doi.org/10.1007/BF00286616