Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase

V Valayannopoulos; N Boddaert; V Barbier; M Le Merrer; C Caillaud; P de Lonlay

doi:10.1016/j.ymgme.2009.12.019

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase

Mol Genet Metab. 2010 May;100(1):20-3. doi: 10.1016/j.ymgme.2009.12.019. Epub 2010 Jan 4.

Authors

V Valayannopoulos¹, N Boddaert, V Barbier, M Le Merrer, C Caillaud, P de Lonlay

Affiliation

¹ Reference Center for Inherited Metabolic Disorders, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, University Paris Descartes, Paris, France. [email protected]

PMID: 20106688
DOI: 10.1016/j.ymgme.2009.12.019

Abstract

Stem cell transplantation is not appropriate first-line treatment for attenuated phenotypes of mucopolysaccharidosis type I (MPS I). In three patients with attenuated MPSA I treated by laronidase, Patients 2 and 3 displayed significant cognitive improvement within 2years; Patients 1 and 3 displayed improvement on MRI scans of the brain.

MeSH terms

Adolescent
Brain / drug effects*
Brain / pathology
Child
Child, Preschool
Cognition / drug effects*
Humans
Iduronidase / therapeutic use*
Intelligence / drug effects
Magnetic Resonance Imaging
Mucopolysaccharidosis I / drug therapy*
Retrospective Studies
Treatment Outcome

Substances

Iduronidase