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Research Article Free access | 10.1172/JCI107409

Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis

Paul J. Benke, Norma Herrick, and Annette Hebert

McArdle Laboratory and the Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin 53706

McArdle Laboratory and the Department of Pathology, University of Wisconsin Medical School, Madison, Wisconsin 53706

Find articles by Benke, P. in: PubMed | Google Scholar

McArdle Laboratory and the Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin 53706

McArdle Laboratory and the Department of Pathology, University of Wisconsin Medical School, Madison, Wisconsin 53706

Find articles by Herrick, N. in: PubMed | Google Scholar

McArdle Laboratory and the Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin 53706

McArdle Laboratory and the Department of Pathology, University of Wisconsin Medical School, Madison, Wisconsin 53706

Find articles by Hebert, A. in: PubMed | Google Scholar

Published September 1, 1973 - More info

Published in Volume 52, Issue 9 on September 1, 1973
J Clin Invest. 1973;52(9):2234–2240. https://doi.org/10.1172/JCI107409.
© 1973 The American Society for Clinical Investigation
Published September 1, 1973 - Version history
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Abstract

We have previously described a 14-yr-old boy with hyperuricemia, renal failure, and accelerated purine production resistant in vivo and in vitro to purine analogs. This patient demonstrated normal red cell hypoxanthine-guanine phosphoribosyltransferase (HPRT) heat stability, electrophoresis at high pH, and activity at standard substrate levels. In the present report an abnormal HPRT enzyme was demonstrated by enzyme kinetic study with phosphoribosylpyrophosphate (PRPP) as the variable substrate and inhibitory studies with sodium fluoride. Apparently normal HPRT activity in a patient with hyperuricemia and gout does not exclude a functionally significant HPRT mutation.

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