MPS I is a progressive, debilitating, and often life-threatening disease. Over time, the enzyme deficiency and resulting accumulation of GAG (dermatan sulfate and heparan sulfate) in tissues and cells has progressively debilitating and often fatal effects, usually due to obstructive airway disease, respiratory infection, or cardiac complications. In the most severe cases of MPS I, death usually occurs by age 10 although some patients may have a normal life span.[1]
Clinical symptoms are heterogeneous and are progressively limiting in nature. A few examples of disease progression include:
Genetic counselors are health professionals who are trained to help families understand genetic disorders such as MPS I disease. A genetic counselor can help you determine if you are a carrier of a gene defect that causes MPS I and can provide valuable information and support for family planning. To learn more, click here.