Partial HGPRT deficiency: persistance of tophi after 12 years of therapeutic normouricemia and development of a pheochromocytoma.
D000328:Adult; D006073:Gout / Q000150:complications / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D010673:Pheochromocytoma / Q000150:complications / Q000473:pathology*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology; D014527:Uric Acid / Q000378:metabolism*
D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase