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Mol Genet Metab. 2013 Jul;109(3):315-6. doi: 10.1016/j.ymgme.2013.04.023. Epub 2013 May 10.

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.

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  • 1Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.


Enzyme replacement therapy is widely used as treatment for mucopolysaccharidosis I (MPS I), and there is evidence that this produces improvement in certain clinical domains. There does appear to be variation in the response of clinical features to treatment once these are established. In a reported sibling pair, when enzyme replacement therapy was commenced pre-symptomatically in the younger child, the natural history of the condition appeared to be affected. We present data from three siblings treated with enzyme replacement therapy at different ages which supports this finding.

Copyright © 2013 Elsevier Inc. All rights reserved.

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