Details of Disease
General Information of Disease (ID: DISLFYYH)
| Disease Name | Hereditary xanthinuria | |||||
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| Synonyms | xanthinuria; xanthine dehydrogenase deficiency; classic xanthinuria; xanthine stone disease; hereditary xanthinuria; xanthic urolithiasis | |||||
| Definition |
Hereditary 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.
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