Abstract
Mucopolysaccharidosis type I (MPS I) is a monogenic disease, with autosomal recessive inheritance, caused by mutations in the IDUA gene. These mutations result in the absence or deficiency of activity of the lysosomal enzyme alpha-L-Iduronidase (IDUA), necessary for the degradation of iduronic acid residues of glycosaminoglycans. The severe form of MPS I is known as Hurler Syndrome (MPS I…