An atypical case of hypoxanthine‐guanine phosphoribosyltransferase deficiency (Lesch‐Nyhan syndrome)

Complete HG‐PRT deficiency was established by means of direct enzyme assay and autoradiography in a patient with relatively little, if any, of the neurological and psychomotor symptoms of the Lesch‐Nyhan syndromes. Family study revealed two other HG‐PRT negative males. Hair root analysis was used for carrier detection. Linkage study produced no evidence of close linkage between Xga and HG‐PRT loci.