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.
Frost P, Weinstein GD, Nyhan WL. Diagnosis of Lesch-Nyhan Syndrome by Direct Study of Skin Specimens. JAMA. 1970;212(2):316–318. doi:10.1001/jama.1970.03170150070017
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: