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Xanthinuria is a rare metabolic disorder that causes an excess of xanthine in the urine, which lead to the formation of urinary stones and related complications.
10 Arbeidsdager
Spesifikasjoner
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Generell informasjon
Xanthinuria is a rare metabolic disorder that causes an excess of xanthine in the urine, which lead to the formation of urinary stones and related complications. The variant of Type I Xanthinuria analysed in this test has been observed in a mixed-breed dog. It is caused by a recessive mutation to the gene XDH. Xanthinuria can be managed with a specialized low-purine diet.
Kliniske egenskaper
Symptomer på xanthinuria-indusert urin steiner kan inkludere anstrengende å urinere, hyppig vannlating, blodig urin og i avanserte tilfeller livstruende urinveisobstruksjon. Sykdommen kan presentere hvor som helst mellom flere måneder og flere år.
Tilleggsinformasjon
Referanser
Pubmed ID: 34584846
Omia ID: 2445