Xanthinuria, type 1 – All breeds
Code: H671
Short description
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.
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 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.
Specifications
| Breeds | All Breeds |
|---|---|
| Gene | XDH |
| Chromosome | 17 |
| Mutation | c.654G>A |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
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
Year published: 2021
Omia ID: 2445
Omia variant ID:
Turnaround information
- 15 working days