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Xanthinuria type II

Disease definition

Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.

ORPHA:93602

  • Synonym(s):
    • XDH and AOX dual deficiency
    • Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: E79.8
  • OMIM: 603592
  • UMLS: C1863688
  • MeSH: -
  • GARD: 5620
  • MedDRA: -

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