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]

Overview

It was first described in 1964 by Dr. Michael Lesch and Dr. William Nyhan.

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.