title: Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical  defects.
mesh_terms: D000293:Adolescent; D000493:Allopurinol / Q000627:therapeutic use; D000619:Aminohydrolases / Q000378:metabolism; D001264:Athetosis / Q000209:etiology; D001921:Brain / Q000201:enzymology; D002493:Central Nervous System Diseases / Q000378:metabolism*; D002547:Cerebral Palsy / Q000145:classification; D002819:Chorea / Q000209:etiology; D004912:Erythrocytes / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005964:Glucosyltransferases / Q000378:metabolism*; D006801:Humans; D007042:Hypoxanthines / Q000134:cerebrospinal fluid*; D008607:Intellectual Disability / Q000209:etiology; D008099:Liver / Q000201:enzymology; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000145:classification; D011687:Purines / Q000134:cerebrospinal fluid; D012652:Self Mutilation; D013035:Spasm / Q000209:etiology; D014970:Xanthines / Q000134:cerebrospinal fluid*
chemical_list: D007042:Hypoxanthines; D011687:Purines; D014970:Xanthines; D000493:Allopurinol; D005964:Glucosyltransferases; D000619:Aminohydrolases