What Causes MPS I?

MPS I is an inherited genetic disorder caused by a deficiency of an enzyme called alpha-L-iduronidase (IDUA). Deficiency of this enzyme causes cellular waste to build up in the body and progressively store in the bones, tissues, organs, and muscles. MPS I tends to affect males and females equally, and is estimated to occur in 1 in 100,000 live births, with approximately 90 cases in Canada.

Genetic Condition Caused By Enzyme Deficiency

Missing or deficient enzyme (alpha-L-iduronidase, or IDUA) causes cellular waste from the cells to store in the bones, tissues, organs, and muscles. This disease is characterized as a lysosomal storage disorder.

Lysosomal Storage Leads To Progressive Symptoms

Virtually all bones, muscles, organs, and tissues in the body are affected by IDUA deficiency, leading to progressive, multi-systemic and debilitating symptoms.

Treatment IS Available

The FDA, the European Commission, and Health Canada have all approved a treatment for MPS I. Developed by BioMarin and SanofiGenzyme, this enzyme replacement therapy (ERT) delivers a synthetic version of the IDUA enzyme into the bloodstream and helps to slow down the progression of the disease.