Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer.
Methods for assaying 16 erythrocyte enzymes have been adapted to the miniature centrifugal analyzer. Less than 15 micro L of whole blood is required for all 16 assays. Variation attributable to temporal effects, rotor effects, and random residual error is minor. Initial population studies of blood from adults and cord-blood samples suggest a CV of less than 12% for 12 of the 16 enzymes; thus it should be possible to identify the heterozygous deficient individual. Preliminary data suggest that three such individuals, with enzyme activity (adenylate kinase, pyruvate kinase, phosphoglycerate kinase) about half the expected, have been identified, as well as two individuals deficient in glucose-6-phosphate dehydrogenase.
D000263:Adenylate Kinase / Q000172:deficiency; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D001219:Aspartate Aminotransferases / Q000172:deficiency; D002498:Centrifugation / Q000379:methods; D004798:Enzymes / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000201:enzymology; D005979:Glutathione Peroxidase / Q000172:deficiency; D005980:Glutathione Reductase / Q000172:deficiency; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000172:deficiency; D006454:Hemoglobins / Q000032:analysis*; D006593:Hexokinase / Q000172:deficiency; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency; D008291:Malate Dehydrogenase / Q000172:deficiency; D010733:Phosphoglucomutase / Q000172:deficiency; D010734:Phosphogluconate Dehydrogenase / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D011770:Pyruvate Kinase / Q000172:deficiency; D014305:Triose-Phosphate Isomerase / Q000172:deficiency; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
D004798:Enzymes; D006454:Hemoglobins; D007770:L-Lactate Dehydrogenase; D008291:Malate Dehydrogenase; D010734:Phosphogluconate Dehydrogenase; D005979:Glutathione Peroxidase; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases; D005980:Glutathione Reductase; D001219:Aspartate Aminotransferases; D006593:Hexokinase; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase; D000263:Adenylate Kinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D014305:Triose-Phosphate Isomerase; D010733:Phosphoglucomutase