Primary hyperoxaluria
Code: H374
Short description
Primary Hyperoxaluria (PH) in dogs is a rare genetic disorder characterized by the excessive production of oxalate in the body.
General information
Primary Hyperoxaluria (PH) in dogs is a rare genetic disorder characterized by the excessive production of oxalate in the body. This condition typically results from a recessive genetic mutation in the AGXT gene that affects the liver’s ability to metabolize glyoxylate, leading to the accumulation of oxalate in the kidneys and urinary tract. This test is specifically for the Coton de Tulear.
Specifications
| Breeds | |
|---|---|
| Gene | AGXT |
| Chromosome | 25 |
| Mutation | c.304G>A |
| Organ | Urinary system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PH1; Oxalosis I |
Clinical features
Oxalate accumulation can lead to urinary crystals or stones that can be painful and potential cause urinary system blockages and kidney damage and impaired function over time. Furthermore, affected puppies might show the following symptoms, depending on the location of the urinary stones: increased urination frequency, straining to urinate, blood in urine (hematuria), increased water intake and other symptoms of kidney failure and urinary tract blockage. When symptoms are severe, euthanasia on humane grounds can be performed.
Symptoms appear usually within the first months after birth.
References
Pubmed ID: 22486513
Year published: 2012
Omia ID: 1672
Omia variant ID:
Turnaround information
- 15 working days