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MPSI Disease Treatment Information for Patients and FamiliesMPSI Disease Treatment Information for Health Care Providers
MPSI
Health Care Professionals
Disease Overview
Diagnosing MPS I
Treatment Options
The MPS I Registry
Resources and Support

Health Care Professionals

Mucopolysaccharidosis I (MPS I) is a rare, autosomal recessive genetic disease that affects multiple organ systems and tissues. The disease is caused by a defect in the gene coding for the lysosomal enzyme α-L-iduronidase. As a result of this defect, the cells of affected individuals with MPS I are either unable to produce the enzyme or produce it in low amounts.

Whether you’re a primary care physician or a specialist seeking more information, this website is designed to provide you with comprehensive information. It includes MPS I disease imagery, information on symptom management, and links to valuable resources for you and your patients.

Did you know...
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. Visit the European Society of Human Genetics or the National Society of Genetic Counselors to learn more.
Watch Video
Alicia is a 16-year-old with MPS I who was diagnosed 10 years ago. Watch Alicia’s story to find out how she is handling life as a teenager living with MPS I.
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