ORPHA:3467
Hereditary xanthinuria
Also called Classic xanthinuria, Xanthic urolithiasis, Xanthine stone disease
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- All ages
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:3467 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hypouricemia
- Decreased urinary urate
- Uric acid nephrolithiasis
- Xanthine nephrolithiasis
- Aldehyde oxidase deficiency
- Reduced xanthine dehydrogenase activity