[Glutathione reductase deficiency with membrane defect in hereditary hemolytic anemia].
Glutathione reductase activity and phospholipid metabolism in red cell membranes were determined in a family with hereditary hemolytic anemia. A marked decrease of glutathione reductase activity and stability of reduced glutathione was found in combination with enhanced phospholipid-phosphate metabolism and decreased activity of the membrane-stabilizing enzyme lysolecithin-acyltransferase. In all cases splenectomy beneficially influenced the hemolytic process. Family studies revealed a dominant-autosomal genetic transmission.
D000293:Adolescent; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D002462:Cell Membrane / Q000201:enzymology; D004912:Erythrocytes / Q000201:enzymology*; D005980:Glutathione Reductase / Q000097:blood / Q000172:deficiency*; D006801:Humans; D008297:Male; D010375:Pedigree; D010710:Phosphates / Q000097:blood; D010743:Phospholipids / Q000097:blood
D010710:Phosphates; D010743:Phospholipids; D005980:Glutathione Reductase
Glutathionreduktasemangel mit Membrandefekt bei Hereditärer Hämolytischer Anämie