Maroteaux-Lamy syndrome

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is a rare autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase B (N-acetylgalactosamine-4-sulfatase) This enzymatic defect prevents the normal degradation of the glycosaminoglycan dermatan sulfate, leading to progressive intracellular accumulation and widespread tissue and organ dysfunction primarily beginning in childhood The multisystem clinical presentation is characteriz...

Maroteaux-Lamy syndrome, also known as mucopolysaccharidosis type VI (MPS VI), is a rare autosomal recessive lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase B (N-acetylgalactosamine-4-sulfatase)

This enzymatic defect prevents the normal degradation of the glycosaminoglycan dermatan sulfate, leading to progressive intracellular accumulation and widespread tissue and organ dysfunction primarily beginning in childhood The multisystem clinical presentation is characterized by dysostosis multiplex, short stature, joint stiffness, coarse facial features, corneal clouding, hepatosplenomegaly, and cardiopulmonary complications such as heart valve disease and upper airway obstruction, typically ...