[Enzyme deficiencies of blood cells in bone marrow insufficiency (author's transl].
Numerous enzyme defects-deficiency of pyruvate kinase, phosphofructo-kinase, glocosephosphate isomerase, adenylate kinase, 2,3-diphosphoglycerate mutase and glutathione reductase--in red blood cells have been described to be connected with dyserythropoietic or refractory anemias and panmyelopathies of different origin. These enzyme deficiencies also have been demonstrated in red cells of patients with acute leukemia. Most likely the enzyme deficiencies are acquired and are not important for the origin of anemia or bone marrow insufficiency. Partial derepression of fetal genes, qualitative and quantitative perturbations of genetic expression, and posttranslational variations of the enzyme protein by low molecular factors from plasma, erythrocytes or leukemic cells have been discussed as a reason of enzyme deficiency. The decrease of glutathione reductase deficiency is dependent of FAD deficiency.
D000110:Acetylcholinesterase / Q000172:deficiency; D000263:Adenylate Kinase / Q000172:deficiency; D000741:Anemia, Aplastic / Q000097:blood; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D000748:Anemia, Macrocytic / Q000097:blood; D001731:Bisphosphoglycerate Mutase / Q000172:deficiency; D001855:Bone Marrow Diseases / Q000097:blood*; D002470:Cell Survival; D004247:DNA / Q000096:biosynthesis; D004912:Erythrocytes / Q000201:enzymology*; D005312:Fetal Blood; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005980:Glutathione Reductase / Q000172:deficiency; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases / Q000172:deficiency; D006801:Humans; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D010732:Phosphofructokinase-1 / Q000172:deficiency; D011770:Pyruvate Kinase / Q000172:deficiency
D004247:DNA; D005987:Glyceraldehyde-3-Phosphate Dehydrogenases; D005980:Glutathione Reductase; D009962:Orotate Phosphoribosyltransferase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D000263:Adenylate Kinase; D000110:Acetylcholinesterase; D009964:Orotidine-5'-Phosphate Decarboxylase; D005634:Fructose-Bisphosphate Aldolase; D001731:Bisphosphoglycerate Mutase
Enzymdefekte in Blutzellen bei Knochenmarkinsuffizienz.