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

Abstract

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.

• Authors: Sarah Laraway, Catherine Breen, Jean Mercer, Simon Jones, James E Wraith
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 109 Issue 3 Pg. 315-6 (Jul 2013) ISSN: 1096-7206 [Electronic] United States
• PMID: 23721889 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2013 Elsevier Inc. All rights reserved.

Chemical References

• Iduronidase

Topics

• Child
• Child, Preschool
• Enzyme Replacement Therapy
• Female
• Humans
• Iduronidase (therapeutic use)
• Infant
• Mucopolysaccharidosis I (drug therapy)
• Phenotype
• Siblings
• Treatment Outcome