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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.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informazioni generali
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 Manchester Terrier. Related variants have also been observed in the Cavalier King Charles Spaniel and in the Dachshund.
Caratteristiche cliniche
Symptoms of xanthine urinary stones can include straining to urinate, frequent urination, bloody urine and in advanced cases life-threatening urinary tract obstruction. The disease can present anywhere between several months and several years of age.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 34584846
Omia ID: 1819