Lesch-Nyhan Syndrome: Autopsy Findings and in Vitro Study of Incorporation of ¹⁴C-8-Inosine into Uric Acid, Guanosine-monophosphate and Adenosine-monophosphate in the Liver

Abstract

The incorporation of ¹⁴C-8-inosine into uric acid, GMP and AMP was investigat-ed by using liver homogenates from a one-year-9-month-old boy with Lesch-Nyhan syndrome, and the result revealed that the incorporation of ¹⁴C-8-inosine into uric acid and xanthine was markedly increased and that into GMP, adenine and adenosine was markedly reduced as compared with those in a control. At autopsy of the patient, the cerebrum was found to be changed into a thin layer of gliosis with degenerative and necrotic nerve cells.