Mucopolysaccharidosis I (MPS I)
is a condition that affects many different parts of the body. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. MPS I is caused by reduced levels or the complete lack of the IDUA enzyme. Without the proper amount of this enzyme, many different organs and tissues of the body become enlarged, resulting in various medical problems. This condition is usually divided into two subtypes, severe MPS I and attenuated MPS I. While both types can cause similar symptoms, people with severe MPS I typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. Although there is no cure for MPS I, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.