Mucopolysaccharidoses are a group of inherited metabolic disorders due to a lack of lysosomal enzymes that are required for a catabolism of glycosaminoglycans (GAG). Skin, blood vessels, tendon and bone require GAG for maintaining the structure and function of these tissues. Accumulation of GAG in cells and tissues due to a reduced enzymatic function leads to progressive cellular damage. Mucopolysaccharidosis VI (MPS VI in dogs affects bones, eyes and joints. Disease manifests in umbilical hernia, cardiovascular dysfunction, hepatomegaly, growth retardation, facial dysmorphia, hip and other joint laxities. Currently there are no available treatments and the disease progresses with time, therefore dogs are usually euthanized before they reach adulthood. Canine MPS VI was reported in Great Dane, Miniature Pinscher, Toy Poodle and Miniature Schnauzer. Different breeds have different mutations within the same gene that are the cause of the MPS VI.
Inheritance: autosomal recessive - read more
Mutation: ARSB gene
Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.
Disease control: read more
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.