xanthinuria
Sign in to saveAlso known as xanthine dehydrogenase deficiency, xanthine oxidase deficiency, Classic xanthinuria, Xanthine stone disease, Xanthic urolithiasis
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.
In the Vinony graph
Vinony's link graph records 26 inbound references to xanthinuria, and connects out to adenosine receptor, diquafosol and copper.
It is catalogued under the topic Inborn errors of purine-pyrimidine metabolism.
Vinony links it to 8 Wikipedia language editions.
Research
264 papers- Xanthinuria.British medical journal · 1959
- [Xanthinuria].Ryoikibetsu shokogun shirizu · 1997
- Candidate causative variant for xanthinuria in a Domestic Shorthair cat.Animal genetics · 2023
- Association of Mutations Identified in Xanthinuria with the Function and Inhibition Mechanism of Xanthine Oxidoreductase.Biomedicines · 2021
- Xanthinuria and pregnancy.Lancet (London, England) · 1977
via PubMed
Wikidata facts
Show 5 more facts
- genetic association
- XDH
- health specialty
- endocrinology
- exact match
- www.orpha.net/ORDO/Orphanet_3467
- ICD-9-CM
- 277.2
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0
~1 min read
Encyclopedic overview
6 sectionsContents
- Presentation
- Causes
- Diagnosis
- Treatment
- References
- External links
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase.
It was first formally characterized in 1954.
Excerpted from Wikipedia’s “xanthinuria” article, available under the CC BY-SA 4.0 licence.