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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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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 7 |
| Mutation | c.232G>T |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
Informations générales
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.
Caractéristiques cliniques
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.
Additional Information
Références
Pubmed ID: 34584846
Year published: 2021
Omia ID: 1819
Omia variant ID: