Mucopolysaccharidosis Type VI
What happens because of that gene change in Mucopolysaccharidosis Type VI?
Genetic changes in the ARSB gene prevent normal production of an enzyme called arylsulfatase B in the body. Arylsulfatase B normally breaks up large sugar molecules called glycosaminoglycans (GAGs) in different parts of the body. When arylsulfatase B isn't working properly or there isn't enough enzyme, GAGs start to build up in the cells. This problem with the storage of GAGs causes health problems for people with Mucopolysaccharidosis Type VI (MPS VI). The buildup of GAGs in cells increases their size, which is why many types of tissue and organs are enlarged in people who are affected by MPS VI. Researchers believe that too many GAGs may also interfere with the normal functioning of cells and cause cell damage and death.