title: [Enzyme deficiencies in glycolysis and nucleotide metabolism of red blood cells in nonspherocytic hemolytic anemia (author's transl)].
abstract: The detection of enzyme deficiencies in glycolytic and nucleotide metabolism of human red blood cells has enriched the pathophysiological knowledge on the origin of nonspherocytic hemolytic anemias (NSHA). So far for 11 of 13 glycolytic enzymes deficiencies have been described which are connected with alterations of biochemical enzymatic properties. The most frequent enzyme deficiencies are those of GPI and PK. By performance of special electrophoretic techniques genetic studies allow the demonstration of homozygote and double heterozygote defect carriers. Up to now only adenylate kinase and pyrimidine 5' nucleotidase deficiencies have been detected as genetically determined in altered nucleotide metabolism. The metabolic alterations of several enzymopathies have been characterized so well, that the pathophysiological relations between enzyme deficiency and NSHA probably have been found to be a sufficient explanation.
mesh_terms: D000251:Adenosine Triphosphatases / Q000172:deficiency; D000263:Adenylate Kinase / Q000172:deficiency; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000209:etiology*; D001731:Bisphosphoglycerate Mutase / Q000172:deficiency; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology*; D002675:Child, Preschool; D004163:Diphosphoglyceric Acids; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005955:Glucosephosphate Dehydrogenase Deficiency; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000172:deficiency; D006019:Glycolysis; D006593:Hexokinase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007770:L-Lactate Dehydrogenase / Q000172:deficiency; D008297:Male; D008875:Middle Aged; D009708:Nucleotidases / Q000172:deficiency; D010732:Phosphofructokinase-1 / Q000172:deficiency; D010735:Phosphoglycerate Kinase / Q000172:deficiency; D010751:Phosphopyruvate Hydratase / Q000172:deficiency; D010744:Phosphoric Monoester Hydrolases / Q000172:deficiency; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000201:enzymology*; D011743:Pyrimidines; D011770:Pyruvate Kinase / Q000172:deficiency; D014305:Triose-Phosphate Isomerase / Q000172:deficiency
chemical_list: D004163:Diphosphoglyceric Acids; D011743:Pyrimidines; D007770:L-Lactate Dehydrogenase; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases; D006593:Hexokinase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D010735:Phosphoglycerate Kinase; D000263:Adenylate Kinase; D009708:Nucleotidases; D010744:Phosphoric Monoester Hydrolases; D000251:Adenosine Triphosphatases; D005634:Fructose-Bisphosphate Aldolase; D010751:Phosphopyruvate Hydratase; D014305:Triose-Phosphate Isomerase; D001731:Bisphosphoglycerate Mutase
vernacular_title: Enzymdefekte in Glykolyse und Nukleotidstoffwechsel roter Blutzellen bei nichtsphärocytären hämolytischen Anämien