Metabolism of human erythrocytes. Studies in health and disease.
Deficiency states have been well established in nine enzymes of anaerobic glycolysis and suggested, but inadequantely confirmed, in others. In additon, hemolytic anemia has been defined in glucose-6-phosphate dehydrogenase deficiency, in certain enzymes glutathione metabolism of importance to the function of the oxidative hexsemonophosphate shunt, and in certain enzymes of nucleotide metabolism. In heterogeneous dyserythropoietic states with ineffective erythropoiesis, enzyme ratios are grossly distorted and differ greatly from those of either normal or reticullocyte-rich blood. Red blood cell (RBC) enzyme deficiencies show noticeable genetic polymorphism, most apparently recessively transmitted anemias actually resulting from inheritance of two different mutant, allelic genes. In addition to causing hemolytic syndromes in selected instances, deficiencies of enzymes more important to other tissues than to the RBC itself are detectable by assay of hemolystates.
D000743:Anemia, Hemolytic / Q000097:blood* / Q000201:enzymology; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D004163:Diphosphoglyceric Acids / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology*; D004920:Erythropoiesis; D014644:Genetic Variation; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood; D005978:Glutathione / Q000378:metabolism; D006600:Hexosephosphates / Q000378:metabolism; D006801:Humans; D007535:Isomerases / Q000172:deficiency; D008297:Male; D009154:Mutation; D009711:Nucleotides / Q000378:metabolism; D010770:Phosphotransferases / Q000172:deficiency; D011110:Polymorphism, Genetic
D004163:Diphosphoglyceric Acids; D006600:Hexosephosphates; D009711:Nucleotides; D010770:Phosphotransferases; D007535:Isomerases; D005978:Glutathione