MPS I (Mucopolysaccharidosis Type I) is a progressive, debilitating and often life-threatening disease. It is an inherited disorder caused by a deficiency of an enzyme called alpha-L-iduronidase (pronounced al-fa el eye-dur-on-I-dase). This enzyme is required for the breakdown of certain substances in the body commonly referred to as GAGs (glycosaminoglycans). As more and more GAGs build up in a person's body, almost all organs can be irreversibly damaged. Therefore, early diagnosis and treatment of MPS I is important.
MPS I is a broad spectrum disease and has also been called Hurler, Hurler-Scheie, and Scheie Syndromes. The incidence of MPS I is estimated to 1:111,000.1
Even though many people with MPS I have the same enzyme deficiency, they may experience a wide range of symptoms and many people have different degrees of disease severity.
Possible signs and symptoms include coarse facial features, enlarged tongue, vision impairment, hearing loss, gastro-intestinal upsets, hydrocephalus, skeletal deformities (joint stiffness, carpel tunnel syndrome, short stature), obstructive airway disease and cardiovascular disease.
People with the most severe form of MPS I (Hurler) typically have central nervous system involvement that worsens over time. Their lifespan is approximately eight to ten years. Individuals at the opposite end of the spectrum (Hurler-Scheie and Scheie) have symptoms that progress over time, with patients showing normal intelligence. These patients may also have a normal lifespan.
Ben, USA, MPSI patient
To learn more about MPS I contact your doctor or other healthcare professionals, or the following patient associations:
Mucopolysaccharide and Related Diseases Society Aust. Ltd
PO Box 623, Hornsby NSW 1630
T: 02 9476-8411
F: 02 9476-8422
Meikle PJ, Hopwood JJ, Claque WF. Prevalence of lysosomal storage disorders. JAMA. Jan 20;281(3):249-54.