Lesch-Nyhan syndrome historical perspective
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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]
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Overview
It was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan.[1]
Historical Perspective
- Michael Lesch was a medical student at Johns Hopkins Hospital, where pediatrician/pediatric oncologist Bill Nyhan was a faculty member, when the two identified LNS and its associated hyperuricemia in two affected brothers, ages 4 and 8.[2]
- Lesch and Nyhan published their findings in 1964.[3]
- Within three years, the metabolic cause was identified by J. Edwin Seegmiller and his colleagues at NIH.[4]
- 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.
- ↑ Nyhan WL. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism. J Inher Metab Dis 1997;20:171-8. PMID 9211189.
- ↑ Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964;36:561-70. PMID 14142409.
- ↑ Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science 1967;155:1682–4. PMID 6020292.