Hypophosphatasia

General Information: Hypophosphatasia is an inherited disorder in dogs characterized by defective bone mineralization due to a deficiency of alkaline phosphatase, an enzyme necessary for proper bone and teeth development. Dogs with two copies of the associated gene mutation are predisposed to this condition, which can manifest at any age. Symptoms include poor growth, abnormal bone development, fractures, and dental issues such as early tooth loss. In severe cases, affected dogs may exhibit significant skeletal abnormalities and chronic pain. While there is no cure for hypophosphatasia, management focuses on supportive care, including pain relief, dietary adjustments, and monitoring bone health.

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 for hypophosphatasia involves screening for specific mutations in the gene associated with this condition, often the ALPL gene. Hypophosphatasia is inherited in an autosomal recessive manner, meaning that dogs must inherit two copies of the mutated gene, one from each parent, to develop the disease. Carrier dogs, possessing only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the disease and a 50% chance of being a carrier. Reliable genetic testing is crucial for informed breeding practices to eliminate this mutation from breeding lines, and breeding two carriers together is not recommended to avoid producing affected pups. Dogs that are not carriers have no increased risk of having affected offspring.