Genetic Test
ARSB (Arylsulfatase B) encodes the enzyme N-acetylgalactosamine-4-sulfatase, which breaks down specific components of mucopolysaccharides, complex molecules composed of proteins and polysaccharides. Mucopolysaccharides play an important role in maintaining connective tissues in the body, and this enzyme helps regulate their degradation to prevent excessive accumulation. This test targets two gene variants associated with mucopolysaccharidosis type VI.
Disease Description
Mucopolysaccharidosis is a disorder caused by the abnormal accumulation of mucopolysaccharides within cells. Mucopolysaccharidosis is classified from type I to type VII, and types I, VI, and VII are most commonly reported in cats. The disease is primarily caused by a deficiency of enzymes required for the degradation of mucopolysaccharides, resulting in their abnormal accumulation in many cell types, including those of the liver, skin, muscle, bone marrow, and leukocytes. Skeletal abnormalities are commonly observed.
