Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
Ebbink BJ, Brands MM, van den Hout JM, Lequin MH, Coebergh van den Braak RR, van de Weitgraven RL, Plug I, Aarsen FK, van der Ploeg AT
Journal of inherited metabolic disease, 2016 Mar
Abstract
It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood-brain barrier. We therefore studied cognitive development and brain abnormalities in the Dutch MPS VI patient population treated with ERT.