Three families with hereditary hemolytic anemia and pyrimidine 5'-nucleotidase deficiency: electrophoretic and kinetic studies.
Three new variants of pyrimidine 5'-nucleotidase (P5N) found in Japan were studied. They are characterized by slow electrophoretic mobility and a high Michaelis constant for cytidine 5'-monophosphate as has been described in previously reported cases, but are unique with respect to the thermostability test and in pH optima. P5N Kumamoto was thermostable and showed a markedly basic shift in the pH optimum. P5N Nagano was thermolabile and had a normal pH optimum. P5N Kurume was thermostable and showed a basic shift in the pH optimum. These data suggest that these variants have structural gene mutations and that they are clearly distinguished from previously reported cases.
D015720:5'-Nucleotidase; D000293:Adolescent; D000328:Adult; D000743:Anemia, Hemolytic / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D002648:Child; D004355:Drug Stability; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D008297:Male; D009708:Nucleotidases / Q000097:blood / Q000172:deficiency*; D010375:Pedigree
D009708:Nucleotidases; D015720:5'-Nucleotidase