MPS I Disease Spectrum
MPS I has a wide spectrum of clinical presentation
MPS I is a progressive multisystemic disease with a broad spectrum of clinical presentation, including the age of onset, the severity of symptoms, the rate of disease progression, and whether there is the early and direct involvement of the brain. MPS I can be classified into severe and attenuated forms.1
MPS I is a continuous spectrum of disease with three phenotypes. Hurler syndrome patients are classified as severe, whereas Hurler-Scheie and Scheie syndrome patients are classified as attenuated.1
In summary, MPS I manifests as a highly heterogeneous spectrum of severity, signs, symptoms, and affected organ systems, with symptoms often onset in early childhood.1,2
Nick, living with MPS I
Clinical spectrum of MPS I1,2
MPS I can be serious and potentially life-threatening
Without disease management, patients with the severe phenotype usually die within the first decade of life, as a result of cardiorespiratory failure and other disease manifestations.2
Without disease management, patients with the attenuated phenotype may have a normal or near-normal life span but may be burdened by considerable morbidity.
Patients with Hurler-Scheie syndrome may face premature death by the age of 30 years.2
References: 1. 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/. 2. Beck M, Arn P, Giugliani R, et al. Genet Med. 2014;16(10):759-765.
MAT-US-2205114-v1.0-10/2022 Last Updated: October 2022