Enzyme replacement therapy (ERT) is approved for the treatment of mucopolysaccharidoses (MPS) I: Hurler syndrome (IH), Hurler-Scheie syndrome (IHS) and Scheie syndrome (IS), II: Hunter syndrome, and VI: Maroteaux-Lamy syndrome. However, ERT is thought to have no therapeutic effect on the central nervous system (CNS) because the enzyme could not permeate through the blood-brain barrier (BBB). We aimed to assess CNS involvement in MPS at the start of ERT and to evaluate the interval changes demonstrated on magnetic resonance imaging (MRI) over a long-term follow up. Read More

Meeting name: SPR 2017 Annual Meeting & Categorical Course , 2017

Authors: Matsubara Yoshiko, Miyazaki Osamu, Nosaka Shunsuke, Kosuga Motomichi, Okuyama Torayuki, Awai Kazuo

Keywords: mucopolysaccharidoses, enzymatic replacement therapy, magnetic resonance imaging