γ-Glutamyl-Cysteine Synthetase Deficiency

Abstract

In some families with hemolytic anemia and a low level of reduced glutathione in erythrocytes, the disorder is associated with a deficiency of glutathione synthetase, the second of two enzymes necessary for glutathione synthesis. We now report a brother and a sister who had nonspherocytic hemolytic anemia and less than 5 per cent of normal amounts of reduced glutathione in their erythrocytes. In these patients, however, a severe deficiency of the first enzyme of glutathione synthesis, γ-glutamyl-cysteine synthetase, was demonstrated. Thus, severe erythrocyte glutathione deficiency and hereditary hemolytic anemia may be associated with a genetically determined abnormality of γ-glutamyl-cysteine synthetase.