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Science 9 September 1977:
Vol. 197. no. 4308, pp. 1084 - 1086
DOI: 10.1126/science.407651
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Articles

Science, Vol 197, Issue 4308, 1084-1086
Copyright © 1977 by American Association for the Advancement of Science

articles

Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme

IH Fox, CM Andres, EW Gelfand, and D Biggar

Erythrocyte purine nucleoside phosphorylase from two brothers had 0.5% of normal activity. It differed from the normal enzyme by a tenfold increase in the Michaelis constant for inosine, an inability of inosine to protect against thermal lability, and a more positive net charge. The altered kinetic properties may account for the milder disease in the patients compared to the previously described cases. The data provide evidence for a structural gene mutation and genetic heterogeneity in the new disease of purine nucleoside phosphorylase deficiency and T cell dysfunction.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Inhibition of purine nucleoside phosphorylase by 8-aminoguanosine: selective toxicity for T lymphoblasts.
I. Kazmers, B. Mitchell, P. Dadonna, L. Wotring, L. Townsend, and W. Kelley (1981)
Science 214, 1137-1139
   Abstract »    PDF »
Limited Value of Uric Acid to Creatinine Ratios in Estimating Uric Acid Excretion.
R. L. WORTMANN and I. H. FOX (1980)
Ann Intern Med 93, 822-825
   Abstract »    PDF »
Familial Hyperuricemia and Renal Disease.
P. U. Massari, C. H. Hsu, R. V. Barnes, I. H. Fox, P. W. Gikas, and J. M. Weller (1980)
Arch Intern Med 140, 680-684
   Abstract »    PDF »
Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia.
N. Edwards, D. Magilavy, J. Cassidy, and I. Fox (1978)
Science 201, 628-630
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