Lesch-Nyhan syndrome historical perspective: Difference between revisions
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==Historical Perspective== | ==Historical Perspective== | ||
*The enzymatic defect associated with Lesch-Nyhan disease, deficiency of the enzyme [[hypoxanthine-guanine | *The enzymatic defect associated with Lesch-Nyhan disease, deficiency of the enzyme [[hypoxanthine-guanine phosphoribosyltransferase]] ([[HGPRT]]), was discovered by Seegmiller and colleagues in 1967. | ||
*The gene encoding the human enzyme was cloned and sequenced by Friedmann and colleagues in 1985. | *The gene encoding the human enzyme was cloned and sequenced by Friedmann and colleagues in 1985. | ||
Revision as of 16:28, 14 August 2012
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Lesch-Nyhan syndrome Microchapters |
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Lesch-Nyhan syndrome historical perspective On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
It was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan.[1]
Historical Perspective
- The enzymatic defect associated with Lesch-Nyhan disease, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was discovered by Seegmiller and colleagues in 1967.
- The gene encoding the human enzyme was cloned and sequenced by Friedmann and colleagues in 1985.
References
- ↑ Ole Daniel Enersen. Lesch-Nyhan syndrome or disease. Who Named It. Retrieved on 2007-05-27.