Welcome to www.MPSVI.com: A Living Resource
This site is devoted to serving the needs of the Maroteaux-Lamy (MPS VI) community. The goal
of this website is to improve the awareness, diagnosis, and treatment of MPS VI, and to provide
access to resources that can help improve the lives of all those affected by this disease.
Whether it's yourself, your child, your relative, or your friend who has or might have MPS VI,
there's every reason in the world to become educated, become involved, and be proactive—now.
MPS VI is a challenging disease—beginning with its diagnosis—for everyone concerned. But the
more you know, the better you'll be prepared to meet those challenges.
MPS VI—A Rare Inherited Disorder
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.1
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.1
MPS VI does not affect intelligence. Despite an altered visual
appearance and physical disabilities, people with MPS VI typically have normal intelligence.1
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).
- Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D,
eds. The Metabolic and Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw-
Hill; 2001:3421-3452.
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