title: A pyruvate kinase variant with an increased affinity for phosphoenolpyruvate in an individual with congenital non-spherocytic haemolytic anaemia.
abstract: A red-cell pyruvate kinase (PK) variant from an individual with congenital non-spherocytic haemolytic anaemia was characterized according to the procedure recommended by the International Committee for Standardization in Haematology (ICSH 1979). Activity of the mutant enzyme in haemolysates was one fifth of that found in normal control subjects. The electrophoretic mobility and thermostability of the mutant enzyme were lower than those of the normal enzyme and its apparent affinity for phosphoenolpyruvate was higher.
mesh_terms: D000255:Adenosine Triphosphate / Q000494:pharmacology; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D002648:Child; D004791:Enzyme Inhibitors; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D008297:Male; D009154:Mutation; D010728:Phosphoenolpyruvate / Q000378:metabolism*; D011770:Pyruvate Kinase / Q000235:genetics* / Q000378:metabolism
chemical_list: D004791:Enzyme Inhibitors; D010728:Phosphoenolpyruvate; D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase