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Medical Dictionary

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Xanthinuria

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Xanthinuria Xanthinuria is an inherited metabolic disorder in which there is deficiency of an enzyme needed to process xanthine, a substance found in caffeine, theobromine, theophylline, and related substances. Unchecked, xanthinuria can lead to kidney stone formation and urinary tract disease (due to xanthine stones) and to muscle disease (due to deposits of xanthine in the muscle).
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