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  • Title: [Mental retardation revealing mucopolysaccharidosis type I in a child treated for cystic fibrosis: a case report].
    Author: Scheidecker S, Vodoff-Oehler MV, Issa-Brunet L, Peralta MF.
    Journal: Arch Pediatr; 2011 Dec; 18(12):1324-6. PubMed ID: 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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