[Defects in erythrocyte glycolysis enzymes as the cause of nonspherocytic hemolytic anemia].
Hereditary non-spherocytary haemolytic anaemias have their cause in enzymopathies of the pentose phosphate cycle and the glycolysis of the erythrocytes. The 11 known enzyme defects of the erythrocytary glycolysis in consequence of the reduced preparation of adenosine triphosphatase condition a deficient stability of the membrane of the erythrocytes. Therefore, the increased autohaemolysis in normal osmotic resistance is a reference to these forms of anaemia, which are particularly to be differentiated from hereditary sperocytoses. In Middle Europe the deficiency of pyruvate kinase plays the greatest part among the otherwise rarely diagnosed enzymopenic haemolytic anaemias.
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000209:etiology*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications; D006593:Hexokinase / Q000172:deficiency; D006801:Humans; D008297:Male; D008875:Middle Aged; D010732:Phosphofructokinase-1 / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D011770:Pyruvate Kinase / Q000172:deficiency
D006593:Hexokinase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase
Defekte der erythrozytären Glykolyseenzyme als Ursache nichtsphärozytärer hämolytischer Anämien