Preferred Label : Xanthinuria type 2;
ICD-11 definition : Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive
disorder of purine metabolism 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.;
ICD-11 synonym : Xanthine dehydrogenase and xanthine aldehyde oxydase dual deficiency;
Origin ID : 1675893580;
Currated CISMeF NLP mapping
- See also inter- (CISMeF)
Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive
disorder of purine metabolism 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.
