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

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Abstract
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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