title: Red cell enzyme deficiencies as non-disease.
abstract: Many red cell enzyme defects have been discovered, many of them in patients with hemolytic anemia. In some cases a cause-and-effect relationship between the enzyme deficiency and shortening of red cell life span has been clearly documented. However, some enzyme deficiencies are well tolerated by the erythrocyte, appearing to produce no impairment in function. These include deficiencies in catalase, galactokinase, UDPGlu-4-epimerase, NADPH diaphorase, phosphoglucomutase, acetylcholinesterase, glutathione reductase, glutathione peroxidase, and adenylate kinase. The capacity of the erythrocyte to tolerate deficiencies in these enzymes indicates either that the metabolic pathways which the enzyme serves are not required by the red cell or that redundancies in metabolism exist which allow the erythrocyte to compensate for the enzyme deficiency.
mesh_terms: D020642:Acatalasia; D000110:Acetylcholinesterase / Q000172:deficiency; D000263:Adenylate Kinase / Q000172:deficiency; D004798:Enzymes / Q000097:blood / Q000172:deficiency*; D004912:Erythrocytes / Q000201:enzymology*; D005686:Galactokinase / Q000172:deficiency; D005693:Galactosemias / Q000201:enzymology; D005979:Glutathione Peroxidase / Q000172:deficiency; D005980:Glutathione Reductase / Q000172:deficiency; D006801:Humans; D009252:NADPH Dehydrogenase / Q000172:deficiency; D010733:Phosphoglucomutase / Q000172:deficiency; D014534:UDPglucose 4-Epimerase / Q000172:deficiency; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency
chemical_list: D004798:Enzymes; D005979:Glutathione Peroxidase; D009252:NADPH Dehydrogenase; D005980:Glutathione Reductase; D005686:Galactokinase; D000263:Adenylate Kinase; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D000110:Acetylcholinesterase; D014534:UDPglucose 4-Epimerase; D010733:Phosphoglucomutase