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Type: Artigo de Periódico
Issue Date: 2010
Authors: GIUGLIANI, Roberto
FEDERHEN, Andressa
MUÑOZ ROJAS, Maria Verónica
VIEIRA, Taiane Alves
ARTIGALÁS, Osvaldo Alfonso Pinto
PINTO, Louise Lapagesse de Carmargo
AZEVEDO, Ana Cecília Medeiros Mano
ACOSTA, Angelina Xavier
BONFIM, Carmem Maria Sales
LOURENÇO, Charles Marques
KIM, Chong Ae
HOROVITZ, Denize Bonfim
NORATO, Denise Yvonne Janovitz
MARINHO, Diane Ruschel
PALHARES, Durval Batista
SANTOS, Emerson Santana
RIBEIRO, Erlane Marques
VALADARES, Eugênia Ribeiro
GUARANY, Fábio Coelho
LUCCA, Gisele Rosone de
SOUZA, Isabel Cristina Neves de
FRAGA, José Carlos
GÓES, José Eduardo Coutinho
CABRAL, José Maria
JARDIM, Laura Bannach
GIULIANI, Liane de Rosso
SILVA, Luiz Carlos Santana da
SANTOS, Mara Lucia Schmitz Ferreira
MOREIRA, Maria Ângela
KERSTENETZKY, Marcelo Soares
RIBEIRO, Márcia Gonçalves
GUARANY, Nicole Ruas
BARRIOS, Patricia Martins Moura
ARANDA, Paulo Cesar
HONJO, Rachel Sayuri
SILVA, Raquel Tavares Boy da
COSTA, Ronaldo
SOUZA, Carolina Fishinger Moura de
ALCANTARA, Flavio Ferraz de Paes e
AVILLA, Sylvio Gilberto Andrade
FAGONDES, Simone Chaves
MARTINS, Ana Maria
Title: Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Citation: GIUGLIANI, Roberto et al. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genetics and Molecular Biology, São Paulo, v. 33, n. 4, p. 589-604, 2010. Disponível em: <>. Acesso em: 17 fev. 2014. <>.
Abstract: Mucopolysaccharidoses (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.
Keywords: Mucopolissacaridoses
Síndrome de Hurler
Síndrome de Hunter
Síndrome de Maroteaux-Lamy
Terapia de reposição enzimática
ISSN: 1415-4757
Appears in Collections:Artigos Científicos - ICB

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