Primary Hyperoxaluria Type I (PH I)

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

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.