Erythrocyte Glyoxalase II Deficiency With Coincidental Hereditary Elliptocytosis

Abstract

Abstract Hereditary hydroxyacl-glutathione hydrolase (Glyoxalase II) deficiency was demonstrated in both homozygous and heterozygous form in kindred in which hereditary elliptocytosis was inherited independently. Homozygotes and heterozygotes for the enzyme deficiency were clearly differentiated by direct enzyme assay and a variety of indirect methods. Four homozygotes exhibited 10 per cent or less of normal activity. Leukocytes do not share the deficiency. Lactoyl-glutathione lyase (Glyoxalase I) activity was entirely normal in both leukocytes and erythrocytes, and was three times more active than Glyoxalase II. Glyoxalase II deficiency was traceable through three generations, was transmitted as an autosomal recessive trait and was not associated with discernible clinical or hematological abnormalities. It did not appear to worsen clinical manifestations of hereditary elliptocytosis where the two abnormalities coexisted.