Mucopolysaccharidosis Type 1 (MPS I): Diagnosis and Treatment

How do doctors diagnose MPS I?

MPS I is included on the newborn screen in Massachusetts. It can be diagnosed before symptoms begin. Follow-up blood and urine tests confirm the diagnosis.

What are the treatments for MPS I?

While there is no cure for MPS I, there are 2 types of treatment to help improve your child’s symptoms and quality of life and lengthen their lifespan:

• Hematopoietic stem cell transplantation (HSCT) is a treatment for people with severe MPS I. This is when blood stem cells (a type of cell that helps the body create red and white blood cells and platelets, or cells that helps repair and build red blood cells) from the bone marrow (spongy inner part of the bones) are taken from one person and given through an IV to the child with severe MPS I. Before starting HSCT, your child may need chemotherapy to prepare their immune system (system in the body that fights disease and illness) for the transplant. The type of chemotherapy given before HSCT is not a type of cancer treatment.
• Enzyme replacement therapy can give the body the enzymes it cannot make on its own. An infusion of the enzyme is introduced back into the body through an IV. This can improve many symptoms of MPS I. Enzyme replacement therapy is given weekly and continued for the rest of your child’s life.

Who is on my child’s care team?

There are many members of your child’s care team, based on their needs and symptoms. If you have questions or concerns, please reach out to Medical Genetics at MGfC at 617-726-3880:

Rev. 6/2022. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.