Hereditary xanthinuria: report on three patients and short review of the literature.
Three patients with hereditary xanthinuria are presented and the pertinent literature is reviewed. In two siblings the disease has been asymptomatic; in the third urolithiasis has developed. Xanthine stone formation is the clinical hallmark of the disease. Hereditary xanthinuria seems to be relatively prevalent in Lebanon.
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D007861:Lebanon; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000652:urine*; D014970:Xanthines / Q000652:urine*
D014970:Xanthines