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Demo

Xanthinuria, type 1 H671

79,00 € each

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Specifications

Breeds

All Breeds
Gene

XDH
Organ

Urinary system
specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Chromosome

17
Year Published

2021

General information

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 analyzed 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.

Clinical features

Symptoms of xanthinuria-induced 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.

 

References

Pubmed ID: 34584846

Omia ID: 2445