Mucopolysaccharidosis Type I (MPS I) is a rare genetic disorder caused by a deficiency of the enzyme α-L-iduronidase, leading to the buildup of complex sugars in the body. This progressive condition can impact multiple organs, causing skeletal abnormalities, vision, and hearing loss, and even cognitive decline.
There are three variants of MPS I, which differ widely in their severity. The severity of the condition depends on how much alpha-L-iduronidase (IDUA) activity is present. Hurler syndrome is the most severe, Scheie syndrome the mildest, and Hurler-Scheie syndrome gives an intermediate phenotype.
Severe MPS I is more common than attenuated MPS ...
