xanthinuria
MeSH: C562584ORPHA: 3467
Overview
purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with xanthinuria, sourced from HPO and Orphanet clinical annotations.
HypouricemiaDecreased urinary urateUric acid nephrolithiasisXanthine nephrolithiasisAldehyde oxidase deficiencyReduced xanthine dehydrogenase levelSulfite oxidase deficiencyHyperxanthinemiaXanthinuriaIncreased urinary hypoxanthine levelCrystalluriaRecurrent urinary tract infectionsHematuriaAcute kidney injuryArthropathyMyopathyMyalgiaMuscle spasmChronic kidney diseaseFlank painGout
Classification & Codes
MeSH Code
C562584Orphanet Code
ORPHA:3467xanthinuria
| MeSH | C562584 |
| Orphanet | ORPHA:3467 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO