Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.

@article{Gabrielli2010EnzymereplacementTI,
  title={Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up.},
  author={Orazio Gabrielli and Lorne Andrew Clarke and Stefano Bruni and Giovanni Valentino Coppa},
  journal={Pediatrics},
  year={2010},
  volume={125 1},
  pages={e183-7}
}
Mucopolysaccharidosis type I (MPS I) is a progressive and multisystemic disease, even in its attenuated Hurler-Scheie and Scheie forms. Clinical trials of enzyme-replacement therapy in MPS I have shown clinical benefit in patients with considerable preexisting disease, but no data exist on the effect of beginning enzyme replacement before the onset of significant clinical signs of disease. Here we present the 5-year follow-up of a boy with attenuated MPS I who had laronidase therapy initiated… CONTINUE READING