Erythrocyte Glyoxalase II Deficiency With Coincidental Hereditary Elliptocytosis

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