Mucopolysaccharidosis type VI, Maroteaux-Lamy syndrome

Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder caused by deficient activity of arylsulfatase B in glycosaminoglycan degradation. The enzyme defect results in the accumulation of dermatan sulfate and chondroitin 4-sulfate in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.