Lesch-Nyhan disease: clinical experience with nineteen patients.
The clinical phenotype in Lesch-Nyhan disease has been analyzed in 19 patients studied in hospital. In each case the diagnosis was made on the basis of inactivity of the enzyme hypoxanthine guanine phosphoribosyltransferase in erythrocyte lysates. All had hyperuricemia, and the presence of 'orange sand' in the diaper was a prominent early complaint. All had self-mutilative behavior, of which the most characteristic form was biting the fingers or lips. All had the neurological syndrome of spasticity and choreoathetoid involuntary movements. All but one had less-than-normal intelligence.
D000293:Adolescent; D002547:Cerebral Palsy / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency; D007360:Intelligence; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000523:psychology*; D008297:Male; D012652:Self Mutilation / Q000209:etiology*
D007041:Hypoxanthine Phosphoribosyltransferase