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Primary Hyperoxaluria

Primary Hyperoxaluria is a rare inherited metabolic disorder affecting Coton de Tulears, characterized by enzyme deficiencies leading to the accumulation of oxalate and calcium oxalate crystals in the kidneys, causing acute renal failure and typically resulting in death or euthanasia within the first two months of life.

Affected Genes: AGXT

Inheritance: Autosomal Recessive

Variant(canFam6):
chr25:51181941: G>A

Breed: Coton de Tulear

General Information: Primary hyperoxaluria is a rare inherited metabolic disorder in Coton de Tulears, characterized by enzyme deficiencies that lead to the accumulation of oxalate and calcium oxalate crystals primarily in the kidneys. Symptoms appear in affected puppies around 3 to 4 weeks of age, manifesting as renal failure with signs like inappetence, vomiting, lethargy, decreased urine production, abdominal pain, and blood in the urine, often resulting in death or euthanasia within the first two months of life.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the AGXT gene can identify carriers of primary hyperoxaluria in dogs, which is inherited in an autosomal recessive manner, necessitating two copies of the mutated gene for disease development. Carrier dogs typically show no symptoms but can produce affected offspring if bred with another carrier, with each pup having a 25% chance of inheriting the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding decisions, and it is advised to avoid breeding known carriers together to prevent producing affected pups. Dogs without the mutation do not face an increased risk of having affected offspring.

References:
Vidgren G, Vainio-Siukola K, Honkasalo S, Dillard K, Anttila M, Vauhkonen H. Primary hyperoxaluria in Coton de Tulear. Anim Genet. 2012 43(3):356-61.