An autopsy case of the Lesch-Nyhan syndrome: normal HGPRT activity in liver and xanthine calculi in various tissues.
An autopsied case of the Lesch-Nyhan syndrome did not indicate the specific pathological features except delayed physical development. 2. Xanthine calculi caused by allopurinol administration scattered in the kidneys, brain, thymus, and thyroid glands, but its excretion into urine was not observed during his life. 3. Activities of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in various tissues indicate complete deficiency, but HGPRT in liver was normal.
D000293:Adolescent; D002137:Calculi / Q000378:metabolism*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism*; D007669:Kidney Calculi / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology* / Q000473:pathology; D008099:Liver / Q000201:enzymology*; D008297:Male; D014970:Xanthines / Q000378:metabolism*
D014970:Xanthines; D007041:Hypoxanthine Phosphoribosyltransferase