Three families with hereditary hemolytic anemia and pyrimidine 5'-nucleotidase deficiency: electrophoretic and kinetic studies.

Abstract	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.
Authors	A Hirono, H Fujii, H Miyajima, T Kawakatsu, Y Hiyoshi, S Miwa
Journal	Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 130 Issue 2 Pg. 189-97 (May 30 1983) ISSN: 0009-8981 [Print] Netherlands
PMID	6307548 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Nucleotidases 5'-Nucleotidase
Topics	5'-Nucleotidase Adolescent Adult Anemia, Hemolytic (enzymology, etiology, genetics) Child Drug Stability Electrophoresis, Cellulose Acetate Female Hot Temperature Humans Hydrogen-Ion Concentration Kinetics Male Nucleotidases (blood, deficiency) Pedigree

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