An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome) |
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| Authors: | R. A. Geerdink W. H. M. de Vries J. Willemse T. L. Oei C. H. M. M. de Bruyn |
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| Affiliation: | Unit of Medical Genetics, University Hospital, Utrecht;Department of Child Neurology, State University, Utrecht;Department of Human Genetics, University of Nijmegen, Nijmegen, The Netherlands |
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| Abstract: | 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. |
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