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Phillip Frost, MD; Gerald D. Weinstein, MD; William L. Nyhan, MD, PhD

JAMA. 1970;212(2):316-318.

Abstract
A molecular diagnosis of the Lesch-Nyhan syndrome was made by the development of an in vivo test of the deficient enzyme. Four patients had studies made with autoradiography of skin biopsy specimens obtained after the intradermal injection of tritium labeled guanine and adenine. Similar results were obtained by incubating skin biopsy specimens of neonatal foreskin in vitro with these precursors. Lesch-Nyhan patients incorporated adenine³H, but not guanine³H. Control patients incorporated both precursors. Mosaicism was not demonstrable in situ in the obligate heterozygotes studied.

Author Affiliations
From the Department of Dermatology, University of Miami (Fla) School of Medicine (Drs. Frost and Weinstein), and the Department of Pediatrics, University of California, School of Medicine, La Jolla, Calif (Dr. Nyhan).

Footnotes
Reprint requests to 1600 NW Tenth Ave, Miami, Fla 33136 (Dr. Frost).

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