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Hereditary xanthinuria
rareHereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
- Identifiers
- MONDO:0018106 Orphanet:3467
- Also known as
- classic xanthinuria · xanthic urolithiasis · xanthine stone disease
Subtypes
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