Mucopolysaccharidosis type I

**Mucopolysaccharidosis type I** (MPS I) is a rare, autosomal recessive lysosomal storage disease caused by mutations in the *IDUA* gene, leading to a deficiency of the enzyme alpha-L-iduronidase This enzymatic defect prevents the degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate, resulting in their progressive accumulation within tissues and organs across the body

**Mucopolysaccharidosis type I** (MPS I) is a rare, autosomal recessive lysosomal storage disease caused by mutations in the *IDUA* gene, leading to a deficiency of the enzyme alpha-L-iduronidase

Clinically, the disease spans a continuous spectrum ranging from severe disease (historically Hurler syndrome) to attenuated forms (historically Hurler-Scheie and Scheie syndromes)

Clinically, the disease spans a continuous spectrum ranging from severe disease (historically Hurler syndrome) to attenuated forms (historically Hurler-Scheie and Scheie syndromes)

Hallmarks include progressive multisystem involvement characterized by skeletal deformities (dysostosis multiplex), coarse facial features, hepatosplenomegaly, corneal clouding, cardiac valve disease, upper airway obstruction, and, in severe cases, neurocognitive decline and shortened lifespan

Hallmarks include progressive multisystem involvement characterized by skeletal deformities (dysostosis multiplex), coarse facial features, hepatosplenomegaly, corneal clouding, cardiac valve disease, upper airway obstruction, and, in severe cases, neurocognitive decline and shortened lifespan