Hereditary xanthinuria
ORPHA:3467· ICD-10 E79.8
Definition
A rare 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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages