title: Molecular basis of red cell enzymopathies associated with hereditary nonspherocytic hemolytic anemia.
abstract: In the past few years, very rapid advances have been made in the field of red cell enzymopathies associated with hereditary nonspherocytic hemolytic anemia, particularly in molecular basis. Nucleotide sequence and amino acid sequence of normal human red cell enzymes have been clarified in phosphofructokinase, aldolase, triosephosphate isomerase, phosphoglycerate kinase, pyruvate kinase, diphosphoglycerate mutase, glucose 6-phosphate dehydrogenase, adenylate kinase and adenosine deaminase. Furthermore, in aldolase-, triosephosphate isomerase-, diphosphoglycerate mutase-, glucose 6-phosphate dehydrogenase-, and adenylate kinase deficiency, single nucleotide changes which cause single amino acid substitutions and finally hemolysis, have been found.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency; D000243:Adenosine Deaminase / Q000097:blood; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000097:blood / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood; D006801:Humans; D007535:Isomerases / Q000172:deficiency; D010770:Phosphotransferases / Q000172:deficiency
chemical_list: D010770:Phosphotransferases; D015720:5'-Nucleotidase; D000243:Adenosine Deaminase; D005634:Fructose-Bisphosphate Aldolase; D007535:Isomerases