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

This paper describes an adult patient, with gout and without any demonstrable activity of the enzyme hypoxanthine‐guanine phosphoribosyltransferase (HG‐PRT). Few of the neurological abnormalities generally associated with severe HG‐PRT deficiency were exhibited by this patient. Psychological studies, however, disclosed that some characteristics of the behaviour anomaly in the Lesch‐Nyhan syndrome are present, but only in a concealed form.