Overview of MPS I

MPS I is a progressive and potentially life-threatening condition

MPS I is a rare, genetic, debilitating, multisystemic, lysosomal storage disease. It is caused by the deficiency of lysosomal enzyme α-L-iduronidase (IDUA), which results in the progressive accumulation of nondegraded material (called glycosaminoglycans or GAGs) in cells throughout the body. The accumulated GAGs can cause cardiovascular complications and respiratory disease, which are the leading morbidities associated with early death in patients with MPS I.1,2

MPS 1 disease instance

A defective gene for enzyme IDUA is the cause of MPS I

If both parents are carriers, every child has a 1-in-4 chance of being born with MPS I.3

MPS I is caused by pathogenic variants in the gene that codes for lysosomal enzyme α-L-iduronidase (IDUA). MPS I is inherited in an autosomal recessive pattern and affects males and females equally. As MPS I is an inherited disease, this condition may affect other family members.1,2
Two common IDUA alleles, W402X and Q70X, and a minor IDUA allele, P533R, account for >50% of the MPS I alleles in the Caucasian demographic.1,2 To date, more than 200 pathogenic variants in the IDUA gene have been identified in patients with MPS I. Some variants result in more severe disease manifestations.4

Inheritance pattern of MPS I

GAG, glycosaminoglycan; IDUA, α-L-iduronidase

References: 1. Neufeld EF, Muenzer J. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed March 21, 2022. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225069235. 2. Vijay S, Wraith JE. Acta Paediatr. 2005;94(7):872-877. 3. Clarke LA. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. University of Washington, Seattle; 1993-2022. Accessed March 21, 2022. https://www.ncbi.nlm.nih.gov/books/NBK1162/. 4. Poletto E, Pasqualim G, Giugliani R, Matte U, Baldo G. Clin Genet. 2018;94(1):95-102.

MAT-US-2205112-v1.0-10/2022 Last Updated: October 2022