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Concise Publication Free access | 10.1172/JCI107263

Dietary-Induced Variation of Hypoxanthine-Guanine Phosphoribosyl Transferase Activity in Patients with the Lesch-Nyhan Syndrome

William J. Arnold and William N. Kelley

1Division of Rheumatic and Genetic Diseases, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

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1Division of Rheumatic and Genetic Diseases, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710

Find articles by Kelley, W. in: JCI | PubMed | Google Scholar

Published April 1, 1973 - More info

Published in Volume 52, Issue 4 on April 1, 1973
J Clin Invest. 1973;52(4):970–973. https://doi.org/10.1172/JCI107263.
© 1973 The American Society for Clinical Investigation
Published April 1, 1973 - Version history
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Abstract

We have studied three patients with the Lesch-Nyhan syndrome to assess the effect of dietary purines on erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity. During dietary purine restriction HGPRT activity rose in all three patients; resumption of normal dietary purine intake or the addition of adenine (10 mg/kg per day) to a purinefree diet resulted in a fall in HGPRT activity. These changes in enzyme activity appeared to be due to an activation or inactivation of the mutant enzyme without a change in the half-life or absolute amount of HGPRT enzyme protein.

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