The Lesch-Nyhan syndrome. First case description in a South African family.
D000293:Adolescent; D001264:Athetosis / Q000235:genetics*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D006147:Guanine; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability / Q000235:genetics*; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics; D008297:Male; D010430:Pentosyltransferases / Q000097:blood; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012652:Self Mutilation; D013019:South Africa
D007042:Hypoxanthines; D006147:Guanine; D010430:Pentosyltransferases