A deficient pyruvate kinase with an electrophoretically slow-moving component.
A deficient erythrocyte pyruvate kinase observed in a patient with congenital non-spherocytic anaemia was characterized by the following properties: very low activity in haemolysates, decreased thermal stability, slightly increased urea denaturation, high affinity for PEP, poor FDP activation, normal ATP inhibition, decreased affinity for ADP, normal pH of optimal activity, and presence of an abnormal slow-moving component in this layer polyacrylamide gel electrophoresis. The patient was probably double heterozygous for two different deficient mutants of erythrocyte pyruvate kinase.
D000244:Adenosine Diphosphate / Q000097:blood; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D002648:Child; D004591:Electrophoresis, Polyacrylamide Gel; D005338:Fibrin Fibrinogen Degradation Products / Q000378:metabolism; D006461:Hemolysis; D006801:Humans; D006863:Hydrogen-Ion Concentration; D008297:Male; D011770:Pyruvate Kinase / Q000172:deficiency*; D013696:Temperature; D014508:Urea / Q000378:metabolism
D005338:Fibrin Fibrinogen Degradation Products; D000244:Adenosine Diphosphate; D014508:Urea; D011770:Pyruvate Kinase