A new glucose-6-phosphate dehydrogenase variant (G6PD Nagano) associated with congenital hemolytic anemia |
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Authors: | K Takahashi H Fujii S Takegawa K Tani A Hirono T Takizawa T Kawakatsu S Miwa |
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Institution: | (1) Department of Pathological Pharmacology, Institute of Medical Science, University of Tokyo, 4-6-1, Shirokanedai, Minato-ku, 108 Tokyo, Japan;(2) Department of Biochemistry, School of Medicine, Kanazawa University, 920 Kanazawa, Japan;(3) Department of Pediatrics, Nagano Red Cross Hospital, 380 Nagano, Japan |
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Abstract: | Summary A new glucose-6-phosphate dehydrogenase (G6PD) variant associated with chronic nonspherocytic hemolytic anemia was reported. The patient, a 6-year-old Japanese male, was noticed to have hemolytic anemia soon after birth, and a diagnosis of G6PD deficiency was made at the age of 2. He had episodes of hemolytic crisis several times after upper respiratory infection. G6PD activity of the patient was 5.5% of normal. The enzymatic characteristics were examined when he was 5 years old, and his G6PD showed faster-than-normal electrophoretic mobility, low Km G6P, high Km NADP, low Ki NADPH, normal utilization of substrate analogues, heat instability, and a normal pH optimum curve. From these results, this was considered to be a new variant and was designated G6PD Nagano. Infection-induced hemolysis and chronic hemolytic anemia seem to be due to markedly impaired enzyme activity and thermal instability. |
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