| MPS VI is one of seven types of MPS. There are an estimated 1100 world-wide. MPS VI, also known as mucopolysaccharidosis VI or Maroteaux-Lamy syndrome, belongs to a group of rare inherited diseases called lysosomal storage disorders. Lysosomes function as recycling centers and are found in cells throughout your body. Within the cell, they break down complex material that the body can no longer use— old proteins, complex sugars, and other material—into small parts that the cells can re-use or remove from the body. This recycling process occurs constantly in every cell and every organ of your body and is critical to healthy growth and development. In order to break down used materials, lysosomes require specific tools called enzymes. Just like an auto mechanic's tools, each type of enzyme performs a very specific job—it breaks down a specific kind of material. People with lysosomal storage disorders are missing an enzyme in their lysosomes. Because the enzyme is missing, their lysosomes cannot break down a specific kind of material, and so that type of material accumulates in their lysosomes. Over time, their lysosomes become filled with this unrecycled material. It's that buildup of unrecycled material over time that causes all of the problems seen in lysosomal storage disorders. There are many enzymes in the lysosome and, to date, doctors know of about 50 different diseases that are caused by missing lysosomal enzymes. In the case of MPS VI, the person is missing or has only very small amounts of an enzyme called arylsulfatase B (ASB) that breaks down a complex sugar called a glycosaminoglycan, or GAG (these materials used to be called mucopolysaccharides). GAG play an important role throughout the body by providing structure to skin, airways, bones, and other organs, and they continually have to be recycled and replaced. In MPS VI, the excessive buildup of GAG causes widespread symptoms that often emerge during infancy and childhood. A Progressive Disease As excess GAG increases over time, the signs of MPS VI progress and permanent damage may occur. Like most other types of MPS (there are 7 different types), the number of symptoms, the severity of the symptoms, and the rate at which the disease progresses vary greatly among affected individuals. MPS VI does not affect intelligence. Despite an altered visual appearance and physical disabilities, people with MPS VI typically have normal intelligence. An Improved Outlook Although there is currently no cure for MPS VI, it's important to know that there are ways to improve the life of the person with MPS VI. Medical treatments exist that can help relieve some of the symptoms. Regular monitoring and early treatment of MPS VI complications may help prevent irreversible damage from occurring. Treatments that target the underlying enzyme deficiency include enzyme replacement therapy (ERT) and hematopoietic stem cell transplant (HSCT). |
About MPS
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