About MPS VI
MPS VI (mucopolysaccharidosis VI), also known as Maroteaux-Lamy Syndrome, is an inherited lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B), an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If the enzyme is not present in sufficient quantities, the normal breakdown of GAGs is incomplete or blocked. The cell is unable to excrete the GAG residues, which then accumulate in the lysosomes of the cell. This accumulation disrupts the cell’s normal functioning and gives rise to the physical manifestations of the disease.
How to Pronounce Mucopolysaccharidosis:
Signs and Symptoms
While patients with a rapidly progressing clinical presentation of MPS VI are usually diagnosed by one to five years of age, those with the more slowly progressing disease may be challenging to identify or may have been misdiagnosed with another condition. The disease progresses over time, and depending on the degree of enzyme deficiency, patients can experience severe disabilities and possibly early death—factors underscoring the importance of early diagnosis.
Symptoms of MPS VI may include:
- Short stature
- Coarse facial features
- Stiff joints
- Breathing problems
- Difficulty walking/hip pain