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Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

[Mental retardation revealing mucopolysaccharidosis type I in a child treated for cystic fibrosis: a case report].


PMID 22030348

Abstract

Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to an α-L-iduronidase deficiency, which leads to an accumulation of glycosaminoglycans in the lysosomes of most cells, resulting in tissue and organ dysfunction. MPS I is inherited in an autosomal-recessive manner. This disorder has a chronic, progressive course and is characterized by mental retardation, dysmorphy, organomegaly, multisystem involvement, and multiple dysostosis. Early disease recognition is important for a prompt start of specific treatment, which improves many aspects of MPS I, and for the patient's overall management.

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I6034 α-L-Iduronidase human, recombinant, expressed in mouse NSO cells