oxypurinol and Lesch-Nyhan-Syndrome

The authors report a case of xanthine stones in a 12-year-old child with Lesh Nyhan syndrome treated by allopurinol at the dose of 10 mg/kg/24 hours. This type of urinary stone is unusual and its structure was confirmed by spectrophotometric analysis. This type of stone, in the context of Lesh Nyhan syndrome, suggests the presence of allopurinol treatment. Discontinuation of this treatment prevents recurrence of xanthine stones.

Topics: Allopurinol; Antimetabolites; Child; Enzyme Inhibitors; Follow-Up Studies; Humans; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Oxypurinol; Spectrophotometry; Urinary Bladder Calculi; Xanthine; Xanthines

Topics: Adolescent; Aminoimidazole Carboxamide; Humans; Hypoxanthine; Hypoxanthines; Infusions, Intravenous; Lesch-Nyhan Syndrome; Leukemia; Male; Oxypurinol; Ribonucleotides; Uric Acid; Xanthine; Xanthines

1. A compound identified as orotidine has been found in the erythrocytes of all subjects on allopurinol. 2. The erythrocyte orotidine concentrations were much higher in patients with renal failure or with the Lesch-Nyhan syndrome. 3. In addition, increased amounts of oxypurinol-7-riboside were excreted in the urine by both of these groups compared with control subjects or with patients with normal renal function on allopurinol. 4. A good correlation was found between urinary oxypurinol-7-riboside excretion and erythrocyte orotidine concentrations. 5. Increased erythrocyte levels of the pyrimidine-sugar UDP-glucose were also found in patients with the highest orotidine levels. 6. The combined results suggest a derangement of pyrimidine nucleotide metabolism during allopurinol therapy. We propose that erythrocyte orotidine formation results primarily from inhibition of orotidine-5'-monophosphate decarboxylase by oxypurinol-7-ribotide.

Topics: Allopurinol; Erythrocytes; Female; Humans; Kidney Failure, Chronic; Lesch-Nyhan Syndrome; Male; Nucleotides; Oxypurinol; Ribonucleosides; Uridine

We report a case of urate overproduction owing to the Lesch-Nyhan syndrome (deficiency of hypoxanthine-guanine phosphoribosyltransferase). Urate crystalluria was controlled by allopurinol therapy but renal calculi developed, which contained a variety of purines, particularly the relatively insoluble xanthine, as well as oxypurinol and hypoxanthine. The potential hazard from the increased amounts of xanthine that are produced during allopurinol therapy for urate overproduction is stressed, as well as the importance of maintaining a high urine flow rate even during such therapy.

Topics: Adult; Allopurinol; Humans; Hypoxanthine; Hypoxanthines; Kidney Calculi; Lesch-Nyhan Syndrome; Male; Oxypurinol; Uric Acid; Xanthine; Xanthines