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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout
- WILLIAM N. KELLEY, M.D.;
- MARTIN L. GREENE, M.D.;
- FREDERICK M. ROSENBLOOM, M.D.;
- J. FRANK HENDERSON, PH.D.; and
- J. E. SEEGMILLER, M.D.
- Requests for reprints should be addressed to William N. Kelley, M.D., Box 3211, Duke University Medical Center, Durham, N. C. 27706
Excerpt
INTRODUCTION Sophisticated biochemical studies in recent years have revealed that the regulation of intracellular metabolism is a logical, orderly, and intricate process. Control of enzyme activity, as well as the rate of enzyme synthesis and catabolism, provide regulatory mechanisms important to the economy of the cell. It has become apparent that some human disorders may indeed result from genetically determined alterations of these normal control mechanisms (1, 2).
A substantial proportion of gouty patients have a metabolic defect characterized by the synthesis of abnormally large quantities of uric acid that in turn is the result of an excessive rate of
Acknowledgments
The authors are indebted to the following physicians, who kindly provided access to and permitted use of information on the following patients: Patient T. S., Martin D. Lidsy, M.D., Houston, Tex.; Patients R. G. and J. G., Maurice D. Kogut, M.D., Los Angeles, Calif.; Patient G. S., James M. Klinenberg, M.D., Los Angeles, Calif.; Patient T. I., T. F. Yu, M.D., New York, N. Y.; Patient A. R., P. J. L. Holt, M.D., and Rodney Bluestone, M.D., London, England; Patient C. M., Hyman M. Katz, M.D., Brooklyn, N. Y.; T. Family, Ira M. Rosenthal, M.D., Chicago, Ill.; Patient A. D., Leif B. Sorensen, M.D., Chicago, Ill.; Patients C. N. and E. S., Stephen Krane, M.D., Boston, Mass., George Cohen, M.D., Boston, Mass., Eaton E. Freeman, M.D., Florence, Mass., and Levin Epstein, M.D., Springfield, Mass.; Patients F. L. and M. L., John Decker, M.D., Bethesda, Md., and John Vandeman, Olympia, Wash.
In addition, the excellent technical assistance of John Miller and Doris Hayashikawa is gratefully acknowledged. Mrs. Mary H. McGinness of the Clinical Center Blood Bank, Bethesda, Md., performed erythrocyte phenotype determinations.
Article and Author Information
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From the Section of Human Biochemical Genetics, National Institute of Arthritis and Metabolic Disease, Bethesda, Md.
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- Received September 6, 1968.
- Accepted October 10, 1968.
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