[Erythrocytic pyruvate kinase deficiency accompanied by a severe neonatal hemolytic anemia. Family study and biochemical characterization of the enzyme].
D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology / Q000209:etiology* / Q000235:genetics; D004912:Erythrocytes / Q000166:cytology / Q000201:enzymology*; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005980:Glutathione Reductase / Q000097:blood; D006593:Hexokinase / Q000097:blood; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007700:Kinetics; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000235:genetics; D010728:Phosphoenolpyruvate / Q000494:pharmacology; D011770:Pyruvate Kinase / Q000172:deficiency*
D010728:Phosphoenolpyruvate; D007770:L-Lactate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D005980:Glutathione Reductase; D006593:Hexokinase; D011770:Pyruvate Kinase
Déficit en pyruvate kinase érythrocytaire accompagné d'une anémie hémolytique néonatale sévère. Etude familiale et caractérisation biochimique de l'enzyme