[Lesh-Nyhan syndrome. A congenital defect of purine metabolism with the clinical symptoms of gout and central nervous disorders].
D001264:Athetosis / Q000235:genetics / Q000378:metabolism; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics / Q000378:metabolism; D003192:Compulsive Behavior; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000378:metabolism; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D012652:Self Mutilation / Q000150:complications* / Q000378:metabolism*; D014166:Transferases; D014527:Uric Acid / Q000097:blood
D014527:Uric Acid; D014166:Transferases
Lesch-Nyhan-Syndrom. Ein kongenitaler Defekt im Purinstoffwechsel mit den klinischen Zeichen einer Gicht und zentralnervösen Störungen.