The Lesch-Nyhan syndrome: a family study.
Two brothers were found to have athetoid cerebral palsy, mental and growth retardation and evidence of self mutilation. One had passed a renal calculus and both had high serum uric acid levels. The diagnosis of Lesch-Nyhan syndrome was confirmed by the finding of low levels of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes and by autoradiography of fibriblasts. The mother, maternal grandmother, a female sibling and a maternal aunt were identified as carriers of the X-linked mutation which was responsible for the enzyme deficiency in the two male siblings.
D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D010375:Pedigree
D000493:Allopurinol