Mucopolysaccharidosis VI - Great Dane

General description

Mucopolysaccharidosis is an inherited lysosomal storage disease that results from a lack of lysosomal enzymes needed for the catabolism of glycosaminoglycans (GAGs). Cartilage, bone, skin, blood vessels, tendons and corneas require GAG to maintain the structure and function of these tissues. If the activity of any catabolic lysosomal enzyme is severely reduced, lysosomal GAG accumulation occurs in tissues, causing progressive and irreversible cellular damage that affects growth, morphology, mobility, organ function, and sometimes neurological development.

In the breed Great Dane, a genetic variant in the ARSB gene has been associated with mucopolysaccharidosis type VI (MPS VI). Affected puppies show clinical signs such as stunted growth, facial dysmorphia, skeletal deformities, pain in the neck area, corneal opacities, and increased respiratory sounds. First symptoms emerge at a young age of just a few months. The genetic variant is inherited in an autosomal recessive manner.