What is MPS VI? A serious genetic disease affecting many systems of the body MPS VI (mucopolysaccharidosis VI or Maroteaux-Lamy syndrome) is a type of genetic disease known as a lysosomal storage disorder (LSD). People born with MPS VI tend to develop a cluster of similar symptoms: short stature, characteristic facial features, stiff joints, breathing problems, and a variety of other medical complications. The disease develops at different rates among affected individuals. Some people will show symptoms in early childhood while others show no symptoms until late adolescence. Eventually MPS VI may become debilitating and can be life threatening.3 MPS VI is inherited People who have MPS VI are born with it. A person who inherits one MPS VI gene from each parent will have MPS VI. Overall, few people have the gene, and MPS VI is very rare, with only about 1,100 cases worldwide.3 An individual with MPS VI is unable to produce enough of a certain enzyme which in turn interferes with normal cell functioning, causing many problems throughout the body. Click here to learn more about the genetics behind MPS VI. MPS VI is a lysosomal storage disease MPS VI belongs to a class of diseases known as lysosomal storage disorders (LSDs). There are more than 40 known LSDs. These diseases are caused by genetic defects that interfere with normal cell functioning, causing excess waste products to build up inside cells.4 Over time, cells accumulate so much waste that this buildup can become harmful to the cells and to the organs they make up. Normally, this waste material is broken down by certain enzymes so it cannot build up. In LSDs, because of a faulty gene, the body is unable to produce enough of one or more of those enzymes. Without sufficient enzyme activity, the waste material cannot be broken down, and thus builds up inside cells. In MPS VI, a substance builds up inside cells that are lacking in an important enzyme In MPS VI, a jelly-like material called glycosaminoglycan (GAG) starts to build up inside cells. Normally the GAG would be broken down by an enzyme known as arylsulfatase B (ASB). In MPS VI, cells are lacking in an important enzyme,3 and without it, they are unable to get rid of the GAG. Over time, the cells fill up with excess GAG and become damaged. MPS VI affects the whole body Cells filled with excess GAG eventually swell and malfunction, damaging the tissues and organs they make up. GAG is found throughout the body, and so it is stored in most cells. Therefore, many major organs can be affected. While organs throughout the body may be impaired, intelligence is not typically impaired in MPS VI, distinguishing MPS VI from many similar disorders. Because MPS VI progresses at different rates in different people, not everyone with the disease shows all the symptoms. Eventually, people with MPS VI experience significant disability. Depending on the severity of the disease, some of these symptoms can progress and become life threatening.3 Charting a new course NAGLAZYME (galsulfase) provides the important enzyme that the body needs to break down GAG. This reduces buildup of GAG that is responsible for damaging cells. Click here to read more about how NAGLAZYME is taking the treatment of MPS VI in an entirely new direction.