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

Autor:	S, Scheidecker, M-V, Vodoff-Oehler, L, Issa-Brunet, M-F, Peralta
Jazyk:	francouzština
Rok vydání:	2010
Předmět:	Male Cystic Fibrosis Mucopolysaccharidosis I Siblings Consanguinity Iduronidase Phenotype Treatment Outcome Child Preschool Intellectual Disability Prenatal Diagnosis Mutation Humans Genetic Predisposition to Disease
Zdroj:	Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 18(12)
ISSN:	1769-664X
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::5b50c361f301459e0213bb9b26b18029 https://pubmed.ncbi.nlm.nih.gov/22030348 Zobrazit plný text záznamu Full Text from ScienceDirect