Xanthinuria type II

Disease Export to PDF
Name:
Xanthinuria type II
Description:
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.
ORPHAcode:
93602
Synonyms:
XDH and AOX dual deficiency
Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14