Mucopolysaccharidosis Type VI (MPS VI) a.k.a. Maroteaux-Lamy Syndrome
What is MPS VI (Maroteaux-Lamy syndrome)?
Maroteaux-Lamy syndrome is an inherited disease that is quite rare. Most people with this condition either lack a partial or a complete amount of an enzyme known as arylsulfatase B (also known as N-acetylgalactosamine-4-sulfatase). With this enzyme deficiency, the body starts to accumulate complex carbohydrates known as glycosaminoglycans, which can severely impact organ functioning. Although Maroteaux-Lamy syndrome varies from person to person, some people will only experience mild symptoms while others can experience life-threatening outcomes.
What are the symptoms of MPS VI (Maroteaux-Lamy syndrome)?
Common symptoms of Maroteaux-Lamy syndrome include:
- Clouding of the cornea, vision loss
- Coarse facial features
- Skeletal and muscular deformities, which can be acute
- Abnormalities within the joints
- Mild to severe chronic pain
- Numbness, tingling
- Loss of hearing (and learning difficulties as a result)
- Enlarged spleen and/or liver
- Pulmonary and cardiac disease
Symptoms sometimes appear in infancy, and sometimes, it is long into adulthood before they slowly develop. It’s imperative that parents talk with their child’s healthcare team if they suspect their child has any of these symptoms.
In severe cases of Maroteaux-Lamy syndrome, symptoms include mobility issues (problems walking), total absence of or delay with puberty, and heart failure in early 20s-30s. Most people with a delayed progression will eventually experience cardiac and pulmonary disease.
Are there treatment options available for MPS VI (Maroteaux-Lamy syndrome)?
There are specific treatments for Maroteaux-Lamy syndrome, which must be overseen by specialists who work in tandem to provide the best possible outcome for their patients. The U.S. Food and Drug Administration (FDA) approved the first treatment in 2005: an enzyme replacement therapy (ERT) known as Naglazyme® (galsulfase).