Orphanet: Hereditary xanthinuria
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Hereditary xanthinuria

Disease 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.

ORPHA:3467

Classification level: Disorder
  • Synonym(s):
    • Classic xanthinuria
    • Xanthic urolithiasis
    • Xanthine stone disease
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E79.8
  • OMIM: 278300  603592
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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