Mucopolysaccharidosis IIIA (New Zealand Huntaway Type)

Other Names: Sanfilippo syndrome type A, MPS IIIA
Affected Genes: SGSH
Inheritance: Autosomal Recessive
Mutation: Insertion
Breed(s): New Zealand Huntaway

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Common Symptoms

Mucopolysaccharidosis (MPS) IIIA (New Zealand huntaway type) is an inherited Lysosomal Storage Disorder affecting dogs. Affected dogs have insufficient activity of the Enzyme heparan N-sulfatase which is responsible for breaking down heparan sulfate. Heparan sulfate is an important component of Connective Tissue. In affected dogs, there is an accumulation of breakdown products in cells, especially those of the nervous system. Affected dogs typically present around 18 months of age with neurologic deterioration. Unlike other forms of mucopolysaccharidoses in dogs, MPS IIIA (New Zealand huntaway type) is a primarily progressive neurologic disease with more limited involvement of the joints and organs. Symptoms include Ataxia and loss of learned behavior. Disease progression is rapid and affected dogs are often euthanized within a month of the onset of clinical signs.


Testing Tips

Genetic testing of the SGSH gene will reliably determine whether a dog is a genetic Carrier of mucopolysaccharidosis IIIA (New Zealand huntaway type). Mucopolysaccharidosis IIIA (New Zealand huntaway type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SGSH gene mutation. Reliable genetic testing is important for determining breeding practices. Because symptoms do not appear until adulthood, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Jolly RD, Johnstone AC, Hubbard DE et al. Screening for the mucopolysaccharidosis-IIIA gene in Huntaway dogs. New Zealand Vet J. 2002;50(3):122. [Not in PubMed]
  • Yogalingam G, Pollard T, Gliddon B et al. Identification of a mutation causing mucopolysaccharidosis type IIA in New Zealand Huntaway dogs. Genomics. 2002 Feb;79(2):150-153. [PubMed: 11829484]