Xanthinuria, type 1 H671

79,00 €

Lytis	*
Gyvūno vardas	*
Gimimo data	*

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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