What is 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. Approximately 1,100 patients in developed countries have MPS VI. It is inherited in an autosomal recessive manner, affects males and females equally, and in most cases, both parents of an affected child are asymptomatic carriers of the disease. MPS VI is a clinically heterogeneous disease with a wide variation in the rate of disease progression, the severit
Related Questions
- Do Department of Justice (DOJ) Title VI implementing regulations prohibit both intentional discrimination and practices that have a discriminatory impact?
- Do other federal agencies have Title VI regulations that prohibit both intentional discrimination and practices that have a discriminatory impact?
- What is MPS VI?
