Gd(-) Gifu and Gd(-) Fukuoka. Two new variants of glucose-6-phosphate dehydrogenase found in Japan |
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Authors: | H. Fujii S. Miwa S. Takegawa K. Takahashi A. Hirono T. Takizawa T. Morisaki H. Kanno T. Taguchi J. Okamura |
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Affiliation: | (1) Department of Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, 108 Tokyo, Japan;(2) Department of Pediatrics, Nagara Hospital, 502 Gifu, Japan;(3) Department of Pediatrics, Kyushu Cancer Center, 815 Fukuoka, Japan |
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Abstract: | 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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