[Congenital hyperuricemia with neurologic disorders].
D000493:Allopurinol / Q000494:pharmacology / Q000627:therapeutic use; D006147:Guanine / Q000378:metabolism; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D008607:Intellectual Disability / Q000209:etiology; D007674:Kidney Diseases / Q000209:etiology; D008661:Metabolism, Inborn Errors; D009422:Nervous System Diseases / Q000209:etiology*; D012730:Sex Chromosomes; D014166:Transferases; D014511:Uremia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D014527:Uric Acid / Q000096:biosynthesis; D014969:Xanthine Oxidase / Q000037:antagonists & inhibitors
D007042:Hypoxanthines; D014527:Uric Acid; D006147:Guanine; D000493:Allopurinol; D014969:Xanthine Oxidase; D014166:Transferases
L'hyperuricémie congénitale avec troubles neurologiques.