Xanthinuria type II

Orpha code: 93602OMIM code: 603592

Definicja

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.

Disease data
Klasyfikacja

Etiological subtype

Synonimy
XDH and AOX dual deficiency
Podwójny Niedobór dehydrogenazy ksantynowej i oksydazy aldehydowej ksantyny
Podwójny Niedobór XDH i AOX
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
Kod ORPHA
93602
Kod OMIM
603592
Kod ICD10
E79.8
Kod ICD11
-

No additional description.

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