Mucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment

dc.creatorGiugliani, Roberto
dc.creatorFederhen, Andressa
dc.creatorMunõz Rojas, Maria Verônica
dc.creatorVieira, Taiane Alves
dc.creatorArtigalas, Osvaldo Alfonso Pinto
dc.creatorPinto, Louise Lapagesse de Camargo
dc.creatorAzevedo, Ana Cecília Medeiros Mano
dc.creatorAcosta, Angelina Xavier
dc.creatorBonfim, Carmem Maria Sales
dc.creatorLourenço, Charles Marques
dc.creatorKim, Chong Ae
dc.creatorHorovitz, Dafne Dain Gandelman
dc.creatorBonfim, Denize
dc.creatorNorato, Denise Y.J.
dc.creatorMarinho, Diane Ruschel
dc.creatorPalhares, Durval
dc.creatorSantos, Emerson Santana
dc.creatorRibeiro, Erlane Marques
dc.creatorValadares, Eugênia Ribeiro
dc.creatorGuarany, Fábio Coelho
dc.creatorLucca, Gisele Rosone de
dc.creatorPimentel, Helena
dc.creatorSouza, Isabel Neves de
dc.creatorCorrêa Neto, Jordão
dc.creatorFraga, José Carlos Soares de
dc.creatorGóes, José Eduardo Coutinho
dc.creatorCabral, José Maria
dc.creatorSimionato, José
dc.creatorLlerena Junior, Juan Clinton
dc.creatorJardim, Laura Bannach
dc.creatorGiuliani, Liane de Rosso
dc.creatorSilva, Luiz Carlos Santana da
dc.creatorSantos, Mara Lúcia Ferreira
dc.creatorMoreira, Maria Ângela Fontoura
dc.creatorKerstenetzky, Marcelo
dc.creatorRibeiro, Márcia Gonçalves
dc.creatorRuas, Nicole
dc.creatorBarrios, Patricia Martins Moura
dc.creatorAranda, Paulo Cesar
dc.creatorHonjo, Raquel S.
dc.creatorBoy, Raquel
dc.creatorCosta, Ronaldo David da
dc.creatorSouza, Carolina Fischinger Moura de
dc.creatorAlcântara, Flavio F.
dc.creatorAvilla, Sylvio Gilberto A.
dc.creatorFagondes, Simone Chaves
dc.creatorMartins, Ana Maria (Medicina)
dc.date2011-11-11T01:19:18Z
dc.date2010
dc.identifier1415-4757
dc.identifierhttp://hdl.handle.net/10183/34295
dc.identifier000786718
dc.descriptionMucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
dc.formatapplication/pdf
dc.languageeng
dc.relationGenetics and molecular biology. Ribeirao Preto. Vol. 33, no. 4 (2010), p. 589-604
dc.rightsOpen Access
dc.subjectMucopolisaccharidoses
dc.subjectHurler syndrome
dc.subjectHunter syndrome
dc.subjectMaroteaux-lamy syndrome
dc.subjectEnzyme replacement therapy
dc.subjectTreatment guidelines
dc.subjectMucopolissacaridose I
dc.subjectMucopolissacaridose II
dc.subjectMucopolissacaridose VI
dc.titleMucopolysaccharidosis I, II, and VI : brief review and guidelines for treatment
dc.typeArtigo de periódico
dc.typeNacional


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