Primary hyperoxaluria type I (PH I) is an autosomal recessive disorder of glyoxylate metabolism caused by a defective alanine-glyoxylate aminotransferase (AGT) enzyme. It is characterized by the accumulation of oxalate and subsequent precipitation of calcium oxalate crystals, primarily in the kidneys, leading to progressive kidney failure. In later stages of the disease, the crystals are accumulated in other tissues including muscles, retina, joints, cartilage and bones. Symptoms may include intense abdominal pain radiating to the groin, blood in the urine, and the passage of kidney stones.
Inheritance: autosomal recessive - read more
Mutation: AGXT gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.