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Article

Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I.

American journal of medical genetics. Part A - 1 Mar 2017

Nestrasil Igor, Shapiro Elsa, Svatkova Alena, Dickson Patricia, Chen Agnes, Wakumoto Amy, Ahmed Alia, Stehel Edward, McNeil Sarah, Gravance Curtis, Maher Elizabeth

Abstract excerpt

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution...

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Identifiers

PMID: 28211988
DOI: 10.1002/ajmg.a.38073
PMCID: PMC5367919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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