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H671

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.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

Informations générales

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 analysed 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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 34584846

Omia ID: 2445

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