title: Studies on pyruvate kinase deficiency, pyrimidine 5-'nucleotidase deficiency and adenosine deaminase overproduction.
abstract: Using recently established ICSH recommended methods, red cell pyruvate kinases (PK) of 20 patients with PK deficiency were characterized and 7 new PK variants were found. Analysis of partially purified red cell pyrimidine 5'-nucleotidase (P5N) from a patient with P5N deficiency provided the evidence for a structural alteration of the enzyme protein. Red cell adenosine deaminase (ADA) from a patient with 40-fold increase in ADA activity associated with hemolytic anemia was purified and compared with that from normal subjects. It is most conceivable that the increased ADA activity represents increased amount of structurally normal enzyme.
mesh_terms: D015720:5'-Nucleotidase; D000243:Adenosine Deaminase / Q000097:blood / Q000235:genetics*; D000743:Anemia, Hemolytic / Q000097:blood; D004912:Erythrocytes / Q000201:enzymology*; D006801:Humans; D009700:Nucleoside Deaminases / Q000235:genetics*; D009708:Nucleotidases / Q000097:blood / Q000172:deficiency*; D011770:Pyruvate Kinase / Q000097:blood / Q000172:deficiency*
chemical_list: D011770:Pyruvate Kinase; D009708:Nucleotidases; D015720:5'-Nucleotidase; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase