Mucopolysaccharidosis type I (MPS I) is a rare genetic disease. It is caused by the pathogenic variants in the IDUA gene, which results in the deficiency of the α-L-iduronidase (IDUA) enzyme. Deficiency of the IDUA enzyme can lead to glycosaminoglycans accumulation, which causes signs and symptoms of MPS I.
When you see a combination of seemingly unrelated signs and symptoms—including hernia, frequent ear infections, joint contractures, and corneal clouding—consider MPS I. Enzyme (IDUA) activity assay and/or DNA test can confirm MPS I diagnosis. You may refer your patient to specialists, such as a geneticist.
GAG, glycosaminoglycan; IDUA, α-L-iduronidase; MPS, mucopolysaccharidosis
MAT-US-2205128-v1.0-10/2022 Last Updated: October 2022