title: [Enzyme deficient non-spherocytic hemolytic anemias].
abstract: Enzymopathies are described concerning the enzymes of the oxidative pentose phosphate pathway including the glutathion system, of the majority of glycolytic enzymes as well as of the ATPase, adenylate kinase and pyrimidine-5'-nucleotidase. The distribution and the frequency of the enzymopathies differ strongly in the various regions of the world. Glucose-6-phosphate dehydrogenase and pyruvate kinase show the highest frequency. The detected polymorphism of the pathological enzyme variants is one of the reasons for the fact that no correlation between the decrease of the catalytic activity and the severity of the anaemias has been found. For the identification of risk-groups more precise methods are necessary. Till now the detailed relationships between enzymopathy and non-spherocytic haemolytic anaemias are not clarified. Furthermore the molecular mechanism of the instability of pathological enzyme variants is not yet clear.
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology; D005955:Glucosephosphate Dehydrogenase Deficiency; D006801:Humans; D011110:Polymorphism, Genetic; D011770:Pyruvate Kinase / Q000172:deficiency
chemical_list: D000255:Adenosine Triphosphate; D011770:Pyruvate Kinase
vernacular_title: Enzymopenisch bedingte nichtsphärozytäre hämolytische Anämien.