title: [Energy metabolism of erythrocytes in pyruvate kinase enzymopathies].
abstract: Until now pyruvate kinase enzymopathies have been described only for red blood cells. On the basis of these results special structural properties of the erythrocyte PK was assumed, which are not yet totally established. PK defects may cause a nonspherocytic hemolytic anemia. This enzymopathy is characterized by a polymorphism, which is expressed in more than 5 different pathological variants. Up to now 16 cases of PK deficiency have ben diagnozed in the GDR. The following parameters are used for the characterization of the PK: the PEP-dependance, the inhibition by ATP and alanine, the specificity to nucleotides, the stability to temperature and urea and the maturation dependence. Two pathological variants of the PK with a decreased PEP-affinity are described. Furthermore the differences in the energy metabolism of the red blood cells of these two patients under aerobic and anaerobic conditions are discussed.
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism / Q000494:pharmacology; D000293:Adolescent; D000328:Adult; D000409:Alanine / Q000494:pharmacology; D000743:Anemia, Hemolytic / Q000209:etiology; D004734:Energy Metabolism; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005859:Germany, East; D006019:Glycolysis; D006801:Humans; D008297:Male; D010375:Pedigree; D010728:Phosphoenolpyruvate / Q000378:metabolism; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000378:metabolism; D013696:Temperature; D014508:Urea / Q000494:pharmacology
chemical_list: D010728:Phosphoenolpyruvate; D000255:Adenosine Triphosphate; D014508:Urea; D011770:Pyruvate Kinase; D000409:Alanine
vernacular_title: Energiestoffwechsel roter Blutzellen bei Pyruvatkinase-Knzymopathien.