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Primary Hyperoxaluria (PH) is a severe metabolic disorder found in the Coton de Tulear.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
Primary Hyperoxaluria (PH) is a severe metabolic disorder found in the Coton de Tulear. The disease, which causes the buildup of oxalate crystals in the kidneys and typically leads to death within weeks, is caused by a recessive mutation to the gene AGXT.
Clinical features
Affected puppies present with signs of kidney failure at 3 to 4 weeks of age. These symptoms can include lack of apetite, lethargy, vomiting, decreased urine production and bloody urine. The disease is severe, and euthanasia on humane grounds is typically elected for within a week of onset.
Additional information
References
Pubmed ID: 22486513
Omia ID: 1672
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