[Routine urinary oxypurine assays for the detection of xanthine-oxidase deficiency (author's transl)].
Xanthine-oxidase deficiency should be suspected whenever hypouricaemia coexists with hypouricuria and hyperoxypurinuria. In 18 months. Two new cases of xanthinuria were detected by routine urinary oxypurine assay among 10,000 patients where uricaemia was systematically tested. The xanthine-oxidase deficiency was associated with Hodgkin's disease in one case and with uncomplicated pregnancy in the other.
D005260:Female; D006689:Hodgkin Disease / Q000378:metabolism; D006801:Humans; D007042:Hypoxanthines / Q000652:urine*; D011247:Pregnancy; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D014527:Uric Acid / Q000097:blood / Q000652:urine; D014970:Xanthines / Q000652:urine*
D007042:Hypoxanthines; D014970:Xanthines; D014527:Uric Acid
Déficit en xanthine-oxydase: dépistage systématique par le dosage des oxypurines urinaires. Deux nouveaux cas.