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April 13, 1970

Diagnosis of Lesch-Nyhan Syndrome by Direct Study of Skin Specimens

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).

JAMA. 1970;212(2):316-318. doi:10.1001/jama.1970.03170150070017

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.