Arylsulfatase B, Blood Spot

Use

This test supports the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome). MPS VI is an autosomal recessive lysosomal disorder characterized by the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B), leading to the accumulation of dermatan sulfate. Clinical features and severity are variable, and can include short stature, dysostosis multiplex, degenerative joint disease, coarse facial features, hepatosplenomegaly, corneal clouding, and cardiac disease. Cognitive abilities are generally unaffected. The test provides diagnostic testing for individuals with clinical signs of MPS VI. Additional biochemical or molecular testing is required to confirm a diagnosis if an enzyme deficiency is detected.