Pathogenesis of MPS I

IDUA enzyme deficiency in MPS I can result in GAG accumulation, which can lead to irreversible damages

The IDUA enzyme is deficient in MPS I, resulting in GAG accumulation in cells which can cause tissue damage. Such damage can be irreversible and lead to loss of function, clinical deterioration, a variety of manifestations, and, in some cases, early death.1

Mechanism of MPS I pathogenesis

GAG clearance in healthy people without MPS 1
GAG accumulation in patients with MPS 1

GAG, glycosaminoglycan; MPS, mucopolysaccharidosis; IDUA, α-L-iduronidase

References: 1. Beck M, Arn P, Giugliani R, et al. Genet Med. 2014;16(10):759-765. 2. de Ru MH, Boelens JJ, Das AM, et al. Orphanet J Rare Dis. 2011;6:55.

MAT-US-2205113-v1.0-10/2022 Last Updated: October 2022