Mucopolysaccharidosis Type VII

Genetic changes in the GUSB gene prevent normal production of an enzyme called β-glucuronidase. This enzyme's normal role is to break down large sugar molecules called glycosaminoglycans (GAGs) in different parts of the body. When β-glucuronidase 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 VII (MPS VII). 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 VII. Researchers believe that too many GAGs may also interfere with the normal functioning of cells and cause cell damage and death.

There are no known environmental, pharmaceutical, or other factors that may make MPS VII condition more severe.

Genetic changes in the GUSB gene are the cause of mucopolysaccharidosis Type VII.