title: A new pyruvate kinase variant (PK Osaka) demonstrated by partial purification and condensation.
abstract: A qualitative variant of erythrocyte and liver pyruvate kinases (PK Osaka) was detected in a family in which two siblings have extremely low PK activity by semipurification with DEAE cellulose chromatography and subsequent concentration of the enzyme solutions. This was previously reported to be a quantitative variant based on studies of crude tissue preparations. The molecular aberrations were characterized by slow mobility upon electrophoresis, abnormal kinetics for phosphoenolpyruvate, and low affinity for anti-human erythrocyte PK serum. The mutant PK L was similar both electrophoretically and immunologically to PK R.
mesh_terms: D002675:Child, Preschool; D002848:Chromatography, DEAE-Cellulose; D004591:Electrophoresis, Polyacrylamide Gel; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007527:Isoenzymes / Q000302:isolation & purification; D008099:Liver / Q000201:enzymology*; D011770:Pyruvate Kinase / Q000172:deficiency / Q000302:isolation & purification
chemical_list: D007527:Isoenzymes; D011770:Pyruvate Kinase