Mucopolysaccharidosis Type VII (Brazilian Terrier)

Mucopolysaccharidosis type VII, also known as sly syndrome, is a hereditary lysosomal storage disorder primarily affecting Brazilian Terriers. This condition results from a mutation in the GUSB gene, leading to insufficient activity of the enzyme beta-glucuronidase. This enzyme is responsible for breaking down glycosaminoglycans (GAGs), which are components of connective tissue, cartilage, tendons, and other body structures. When the enzyme is deficient, GAGs accumulate within cells, causing permanent damage and leading to a range of symptoms.