Defective erythrocyte pyruvate kinase with impaired kinetics and reduced optimal activity.
D000227:Adenine Nucleotides / Q000378:metabolism; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000235:genetics; D002648:Child; D004789:Enzyme Activation; D004912:Erythrocytes / Q000201:enzymology*; D005636:Fructosephosphates / Q000378:metabolism; D006019:Glycolysis; D006801:Humans; D007527:Isoenzymes / Q000378:metabolism; D007700:Kinetics; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010728:Phosphoenolpyruvate / Q000627:therapeutic use; D011770:Pyruvate Kinase / Q000378:metabolism*
D000227:Adenine Nucleotides; D005636:Fructosephosphates; D007527:Isoenzymes; D010728:Phosphoenolpyruvate; D011770:Pyruvate Kinase