Mucopolysaccharidosis type IIIa or Sanfilippo syndrome type A is an autosomal recessive hereditary disease described in Dachshund. It is characterized by deficiency of lysosomal exohydrolase, a heparan sulphate sulphamidase (HSS), which is crucial for metabolism of heparan sulphate. That deficiency results in intralysosomal accumulation of heparan sulphate. The symptoms include decreased HSS catalytic activity in liver and progressive neurologic defects, such as spinocerebellar ataxia.
Inheritance: autosomal recessive - read more
Mutation: SGSH gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.