Disease Progression
MPS I disease progression can result in clinical decline, serious organ damage, and early death
MPS I is caused by the deficiency of the IDUA enzyme, which can lead to the accumulation of glycosaminoglycans (GAGs) in cells. Accumulation of GAGs causes the signs and symptoms of MPS I. MPS I is a progressive, often debilitating, and potentially fatal disease. The leading cause of death is cardiorespiratory failure. The age of onset, rate of disease progression, and clinical manifestations vary widely among individuals.1,2
Attenuated MPS I disease is often misdiagnosed
Patients with the attenuated phenotype may have a normal/near-normal life span but may be burdened by considerable morbidity or, in some cases, may face premature death. Diagnostic delays among people with attenuated MPS I are unfortunately common. The progressive accumulation of GAGs can cause cardiovascular complications and respiratory disease, which are the leading morbidities associated with early death in patients with MPS I.2,3
The varying disease presentation and seemingly unrelated signs and symptoms can lead to years of misdiagnoses and diagnostic delays in patients with attenuated MPS I.1,2,4
GAG, glycosaminoglycan; MPS, mucopolysaccharidosis
References: 1. Beck M, Arn P, Giugliani R, et al. Genet Med. 2014;16(10):759-765. 2. D'Aco K, Underhill L, Rangachari L, et al. Eur J Pediatr. 2012;171(6):911-919. 3. Vijay S, Wraith JE. Acta Paediatr. 2005;94(7):872-877. 4. Pastores GM, Arn P, Beck M, et al. Mol Genet Metab. 2007;91(1):37-47.
MAT-US-2205115-v1.0-10/2022 Last Updated: October 2022