title: Hereditary xanthinuria: report on three patients and short review of the literature.
abstract: 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.
mesh_terms: 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*
chemical_list: D014970:Xanthines