Mucopolysaccharidosis VI

About Mucopolysaccharidosis VI

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.  These materials remain stored in the body’s cells, causing progressive damage, causing many tissues and organs to enlarge, become inflamed or scarred, and eventually waste away. Skeletal abnormalities are also common in this condition. Mucopolysaccharidosis type 6MPS VI is estimated to occur in 1 in 250,000 to 600,000 newborns. This is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI affect many bodily systems, including skeletal, cardiac, and respiratory.  Skeletal abnormalities include a large head with a buildup of fluid in the brain, distinctive-looking facial features that are described as “coarse,” and a large tongue. Other skeletal features include short stature, joint deformities that affect mobility, and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. People with MPS VI may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.  Cardiac problems in people with MPS VI typically includes heart valve abnormalities. Respiratory abnormalities in this condition may involve the airway becoming narrow, which leads to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea).  Other names for this condition include: Arylsulfatase B deficiency, Maroteaux-Lamy Syndrome, MPS VI, MPS6, Mucopolysaccharidosis VI,  and Polydystrophic Dwarfism.