A case of Lesch Nyhan syndrome with delayed onset of self-mutilation: search for abnormal biochemical, immunological and cell growth characteristic in fibroblasts and neurotransmitters in urine.
D000228:Adenine Phosphoribosyltransferase / Q000378:metabolism; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000378:metabolism; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000276:immunology / Q000378:metabolism* / Q000523:psychology; D008297:Male; D011622:Pterins / Q000652:urine; D012652:Self Mutilation / Q000209:etiology*
D011622:Pterins; D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase