Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase.
D000328:Adult; D000493:Allopurinol / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D011756:Diphosphates; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006073:Gout / Q000150:complications*; D006801:Humans; D007223:Infant; D007669:Kidney Calculi / Q000209:etiology*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy; D010770:Phosphotransferases / Q000097:blood / Q000378:metabolism; D011687:Purines / Q000096:biosynthesis / Q000378:metabolism; D014527:Uric Acid / Q000378:metabolism
D011756:Diphosphates; D011687:Purines; D014527:Uric Acid; D000493:Allopurinol; D010770:Phosphotransferases