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

Publisher Website
Google Scholar
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.

This publication has 0 references indexed in Scilit: