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Mucopolysaccharidoses in Dogs

Metabolic Disorders Due to Lysomal Enzyme Deficiency in Dogs

Mucopolysaccharidoses refer to a collection of metabolic disorders seen in dogs, characterized by the accumulation of glycosaminoglycans (GAGs), also known as mucopolysaccharides. These disorders stem from deficiencies in lysosomal enzymes, leading to the buildup of GAGs which play crucial roles in the formation of bones, cartilage, skin, tendons, corneas, and joint lubrication fluid.

Certain breeds show a predisposition to mucopolysaccharidoses, including Plott hounds, Labrador retrievers, wire-haired dachshunds, Huntaway (sheep) dogs, miniature pinschers, miniature schnauzers, Welsh corgis, German shepherds, and mixed breeds.

Symptoms and Types

The symptoms and signs of mucopolysaccharidoses vary depending on the specific enzyme deficiency, the type of glycosaminoglycan (GAG) stored, and the tissue affected by storage. Common symptoms include:

  • Dwarfism
  • Severe bone disease
  • Degenerative joint disease (DJD), which may lead to partial dislocation of the hip joint
  • Structural deformities in the facial features
  • Enlargement of the liver
  • Enlargement of the tongue
  • Cloudiness in the eyes.


The cause of mucopolysaccharidoses is rooted in genetic abnormalities. However, the risk increases with inbreeding, particularly when the defective gene exists within the family lineage.


To diagnose mucopolysaccharidoses in your dog, provide your veterinarian with a comprehensive history of your pet’s health, including details about when symptoms began and their nature. Your veterinarian will conduct a thorough physical examination along with biochemical profiling, urinalysis, and a complete blood count (CBC). These tests can provide initial diagnostic clues, including the identification of characteristic granules within certain white blood cells such as neutrophils and monocytes. Additionally, samples may be taken from various body sites and organs like the liver, bone marrow, joints, and lymph nodes for further evaluation.

Definitive diagnosis often involves measuring lysosomal enzyme levels in the blood or liver. Bone X-rays are also conducted to identify decreased bone density and other bone- and joint-related abnormalities.


Treatment options for dogs with mucopolysaccharidoses include:

  • Bone marrow transplant: This procedure, if performed early in life, may allow the dog to lead a “near normal” life. However, it is costly, poses life-threatening risks, and is less beneficial at an older age. Additionally, finding a healthy donor for bone marrow transplant is necessary.
  • Enzyme replacement therapy: Effective for dogs with mucopolysaccharidoses, this therapy is costly and not widely utilized in animals.
  • Gene therapy: Currently under evaluation for both human and animal treatment, gene therapy is considered a potentially effective treatment method for mucopolysaccharidoses.

Each treatment option has its own considerations and challenges, and the suitability of treatment depends on various factors including the age and health status of the dog.

Living and Management

Living and managing dogs with mucopolysaccharidoses involve several considerations:

  • Prognosis after bone marrow transplant: Dogs that undergo bone marrow transplants typically have a good overall prognosis. However, as they age, they may experience various issues, including difficulties with eating. Therefore, they may need softer and easily digestible foods. These dogs are also susceptible to infections and may require antibiotic therapy.
  • Genetic nature of the disorder: Given the genetic nature of mucopolysaccharidoses, veterinarians advise against breeding dogs affected by this group of disorders.

Managing the condition requires ongoing care and attention to ensure the dog’s quality of life. Regular veterinary check-ups and adherence to treatment protocols are essential for effectively managing mucopolysaccharidoses in affected dogs.

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