Definition of Xanthinuria

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Xanthinuria: A rare metabolic disorder that is caused by lack of an enzyme needed to process xanthine, an alkaloid found in caffeine; theobromine; theophylline; and related substances. Unchecked, xanthinuria can lead to kidney stone formation. Treatment involves avoiding foods and drinks that contain xanthine derivatives, such as coffee, tea, and cola. Classic xanthinuria is inherited in an autosomal recessive manner and involves a defect in the enzyme xanthine dehydrogenase.