Educational Content: This article is for informational purposes only and does not constitute medical advice. Always consult a healthcare provider for diagnosis and treatment.
Definition of Xanthinuria
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
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.
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