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A Guide to Understanding MPS VI (Maroteaux-Lamy Syndrome)

key information

source: National MPS Society

year: 2021

summary/abstract:

Mucopolysaccharidosis VI (MPS VI) is a very rare genetic disorder characterized by a large head, distinctive “coarse” features, and a large tongue. It is also known as Maroteaux-Lamy syndrome, named after two French physicians, Dr. Pierre Maroteaux and his mentor, Dr. Maurice Emil Joseph Lamy, who first described the condition in 1963. Other names for MPS VI include polydystrophic dwarfism and arylsulfatase B deficiency.

How Is MPS VI Diagnosed?

As stated previously, MPS VI is one type of MPS, which is a subgroup of LSDs. As such, although each MPS type has its own specific combination of symptoms, there are many symptoms common to all types of MPS. In addition, since MPS VI has a range of disease severity, the symptoms of the disease also vary in severity. These issues make it complicated to diagnose the disease. Doctors may consider testing for MPS VI when signs and symptoms of the disease are present and are not explained by other causes. All diagnostic tests should be overseen by a doctor with expertise in LSDs, as the tests are complicated, and the results may be difficult to interpret.

 

 

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