Diagnosis of Lesch-Nyhan syndrome by direct study of skin specimens.
D000225:Adenine / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004796:Clinical Enzyme Tests; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006147:Guanine / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008875:Middle Aged; D009069:Movement Disorders / Q000150:complications; D012652:Self Mutilation / Q000150:complications; D012867:Skin / Q000201:enzymology*; D014166:Transferases / Q000032:analysis*; D014316:Tritium; D014527:Uric Acid / Q000096:biosynthesis / Q000097:blood* / Q000652:urine
D007042:Hypoxanthines; D014316:Tritium; D014527:Uric Acid; D006147:Guanine; D014166:Transferases; D000225:Adenine