Abstract
Hereditary xanthinuria is a novel autosomal recessive disorder of purine metabolism resulting from the deficiency of xanthine dehydrogenase. An 11-month-old boy admitted with the complaints of irritability for 6 months, darkening of the urine and spontaneous passage of stone. Both serum and urine levels of uric acid were below normal. Urinary ultrasonography was normal. Stone analysis revealed that it was a hypoxanthine stone. The case is reported because hereditary xanthinuria is a rare cause of childhood urolithiasis.
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