Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is an inherited disease characterized by developmental delays, distinctive facial features, enlarged organs, and skeletal and joint abnormalities. It involves abnormalities in the enzyme α-L-iduronidase, which breaks down large sugars (known as glycosaminoglycans or mucopolysaccharides). The symptoms of MPS I are due to the build-up of mucopolysaccharides within cells. Mucopolysaccharidosis type I is also known as Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS I H/S), or Scheie syndrome (MPS I S). View testing options