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

作者：Laraway Sarah; Breen Catherine^*; Mercer Jean; Jones Simon; Wraith James E

来源：Molecular Genetics and Metabolism, 2013, 109(3): 315-316.

DOI：10.1016/j.ymgme.2013.04.023

• Mucopolysaccharidosis
• Enzyme replacement therapy

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.

• 出版日期2013-7