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Xanthinuria is a metabolic disorder that causes an excess of xanthine in the urine, which leads 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 metabolic disorder that causes an excess of xanthine in the urine, which leads to the formation of urinary stones and related complications. Type II xanthinuria is caused by a recessive mutation to the gene MOCOS. The variant of the disorder analysed in this test is found in the Cavalier King Charles Spaniel and English Cocker Spaniel. Related variants are also found in the Dachshund and Manchester Terrier.
Kliniske egenskaper
Symptomer på xanthin urinstein kan gi problemer med å tisse, hyppig vannlating, blodig urin og i noen tilfeller livstruende tilstopping av urinveiene. Sykdommen kan oppstå ved forskjellige aldre.
Tilleggsinformasjon
Referanser
Pubmed ID: 34584846
Omia ID: 1819