title: Pyruvate kinase hyperactivity genetically determined metabolic consequences and molecular characterization.
abstract: Four people from the same family with red cell pyruvate kinase (PK) hyperactivity are described. These people displayed low 2,3-diphosphoglycerate (2,3-DPG) and high adenosine triphosphate (ATP) levels. In vitro metabolism studies of their red cells showed the relationship between the PK activity, low 2,3-DPG, and high ATP levels. The PK electrophoretic pattern of these subjects was abnormal by the presence of several additional bands; one of them migrated like PKM2. PKR from these people was thermounstable and M2-like PK was identical to PKM2 for immunologic reactivity and KO, 5s for phosphoenolpyruvate.
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D055598:Chemical Phenomena; D002621:Chemistry; D004163:Diphosphoglyceric Acids / Q000096:biosynthesis / Q000097:blood; D004588:Electrophoresis, Cellulose Acetate; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D006801:Humans; D006824:Hybridization, Genetic; D008297:Male; D011086:Polycythemia / Q000097:blood; D011770:Pyruvate Kinase / Q000235:genetics* / Q000302:isolation & purification / Q000378:metabolism
chemical_list: D004163:Diphosphoglyceric Acids; D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase