GD (-) Aachen,a new variant of deficient glucose-6-phosphate dehydrogenase |
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Authors: | Dr. Axel Kahn Albrecht Esters Manfred Habedank |
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Affiliation: | (1) Unité 24 de l'INSERM, E.R.A. 573 du CNRS, and University of Paris VII, Paris, France;(2) Abteilung Kinderheilkunde der RWTH Aachen, Aachen, Germany;(3) Present address: Hôpital Beaujon, F-92110 Clichy, France;(4) Centre de Recherche sur les Enzymopathies Association Claude Bernard et Unité 24 de l'INSERM, Hôpital Beaujon, F-92110 Clichy, France |
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Abstract: | Summary A deficient G-6PD variant was discovered in 4 males of one family from north-western Germany. Five generations of this family could be studied.The deficient G-6PD was a new variant, called Gd (-) Aachen . Its main characteristics are the following: severe enzyme deficiency in erythrocytes (3% of normal), contrasting with an almost normal activity in leukocytes; normal molecular specific activity (i.e., normal ratio enzyme activity/cross-reacting material); slow mobility in starch gel electrophoresis (92–94% of normal); increased Michaelis constant for glucose-6-phosphate (60–70 M) and NADP+ (20–25 M); decreased inhibition constant by NADPH with respect to NADP+ (7 M); increased inhibition by ATP; normal utilization of the substrate analogues; slightly biphasic pH curve; thermal instability, and normal activation energy of the enzymatic reaction.The relationships between the hematologic disorders (severe and frequent hemolytic crises) and the unfavorable kinetic modifications are discussed.with the technical assistance of Joelle Marie and Dominique CottreauDedicated to Prof. Dr. H. Schonenberg, Aachen, on his 60th birthday. The first results of this work were presented in part at the Kongress der Deutschen Kinderärzte, München. |
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