MPS I Disease

MPS I disease is a rare, inherited, genetic disorder caused by a deficiency in an enzyme called alpha-L-iduronidase. MPS I occurs in about 1 in every 100,000 births globally. Patients with MPS I disease can experience a wide range of symptoms with variable degrees of severity. If you suspect MPS I disease, get tested.

​ Use this checklist to prompt a discussion with your physician.

A dry blood spot test and/or genetic testing can help early detection of MPS I disease

Possible Symptoms of MPS I Disease

Carpal tunnel syndrome

Carpal tunnel syndrome is a condition that causes pain, numbness, and tingling in the hands and arms. This may cause nerve damage and challenges grasping objects.

Heart disease

Some types of heart problems that occur include: a weakened heart muscle, stiffened and scarred heart, and coronary artery disease. Patients living with MPS I disease may also develop problems with their heart valves.

Obstructive Sleep Apnea

Obstructive sleep apnea is a potentially serious sleep disorder that causes the muscles in the throat to relax and block the airway during sleep, which causes breathing to repeatedly stop and start.

Skeletal problems

Skeletal problems can include problems with growth and bone formation, including abnormally-shaped bones. The spine can also be affected, including spinal deformities such as scoliosis and a poorly-formed spine.

Stiffened joints

Stiffness of joints may cause pain and limited range of movement and may create challenges with dressing and other activities.

Upper airway infections

Upper airway infections include bacterial infections that occur in the middle area of the ear and sinuses.


Canadian MPS Society

A federally registered charity that exists to support those affected by MPS and related lysosomal storage disorders.

Health information contained herein is provided for general educational purposes only. Your healthcare professional is the single best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.

Copyright © 2022. A Canadian research-based pharmaceutical company.
All rights reserved. MAT-CA-2001137 June 2022.