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GD (-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase

Clinical, genetic, and biochemical aspects

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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 μM) and NADP+ (20–25 μM); decreased inhibition constant by NADPH with respect to NADP+ (7 μM); 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.

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Author notes

  1. Axel Kahn (Chargé de recherche à l'INSERM)

    Present address: Hôpital Beaujon, F-92110, Clichy, France

Authors and Affiliations

  1. Unité 24 de l'INSERM, E.R.A. 573 du CNRS, and University of Paris VII, Paris, France

    Axel Kahn (Chargé de recherche à l'INSERM), Albrecht Esters & Manfred Habedank

  2. Abteilung Kinderheilkunde der RWTH Aachen, Aachen, Germany

    Axel Kahn (Chargé de recherche à l'INSERM), Albrecht Esters & Manfred Habedank

  3. Centre de Recherche sur les Enzymopathies Association Claude Bernard et Unité 24 de l'INSERM, Hôpital Beaujon, F-92110, Clichy, France

    Axel Kahn (Chargé de recherche à l'INSERM)

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  1. Axel Kahn
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  2. Albrecht Esters
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  3. Manfred Habedank
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Additional information

Dedicated 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.

with the technical assistance of Joelle Marie and Dominique Cottreau

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Kahn, A., Esters, A. & Habedank, M. GD (-) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Hum Genet 32, 171–180 (1976). https://doi.org/10.1007/BF00291500

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