Xanthinuria in a Large Kindred
Xanthinuria is a rare hereditary disorder characterized by a gross deficiency of xanthine oxidase activity in tissues with a resultant decrease in urinary uric acid excretion and a concomitant increase in the excretion of xanthine and hypoxanthine in the urine. The differential diagnosis of hypouricemia includes many disorders such as uricosuric drugs, a specific defect in uric acid reabsorption from the tubule as reported by Praetorius and Kirk (1) and the Fanconi syndrome such as heavy metal intoxication or Wilson’s disease. These are associated with an increase in uric acid excretion however while the association of hypouricemia and hypouricosuria in conjunction with xanthinuria is an expression of xanthine oxidase impairment either primary or induced by enzyme blockers such as allopurinol.
KeywordsUric Acid Xanthine Oxidase Serum Uric Acid Calcium Oxalate Fanconi Syndrome
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