[Three cases of hereditary xanthinuria: review of the literature (author's transl)].
Xanthinuria is a rare hereditary disorder characterized by a gross deficiency of the enzyme xanthine oxydase resulting in hypouricemia, hypouricosuria and increased serum and urinary oxypurines. Three patients with this disease are presented and the pertinent literature is reviewed. We have demonstrated in one subject the absence of xanthine oxydase activity in a renal fragment. Genetic studies were performed but we do not find any relation between this deficiency of enzyme xanthine oxydase and HLA, Pl, Gm groups.
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D007583:Jejunum / Q000201:enzymology; D007668:Kidney / Q000201:enzymology / Q000503:physiopathology; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D014527:Uric Acid / Q000378:metabolism; D014969:Xanthine Oxidase / Q000172:deficiency; D014970:Xanthines / Q000652:urine*
D014970:Xanthines; D014527:Uric Acid; D014969:Xanthine Oxidase
A propos de trois observations de xanthinurie familiale: revue de la littérature.