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Title: Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
Authors: Giugliani, Roberto
Federhen, Andressa
Munoz Rojas, Maria Verônica
Vieira, Taiane
Artigalás, Osvaldo
Lapagesse Pinto, Louise
Azevedo, Ana Cecília
Acosta, Angelina
Bonfim, Carmen
Lourenço, Charles Marques
Chong Ae, Kim
Horovitz, Dafne
Bonfim, Denize
Norato, Denise
Marinho, Diane
Palhares, Durval
Santos, Emerson Santana
Ribeiro, Erlane
Valadares, Eugênia
Guarany, Fábio
Lucca, Gisele Rosone De
Pimentel, Helena
Souza, Isabel Neves de
Corrêa Neto, Jordão [UNIFESP]
Fraga, José Carlos
Goes, José Eduardo
Cabral, José Maria
Simionato, José
Llerena Junior, Juan
Jardim, Laura
Giuliani, Liane
Silva, Luiz Carlos Santana da
Santos, Mara L.
Moreira, Maria Angela
Kerstenetzky, Marcelo
Ribeiro, Márcia
Ruas, Nicole
Barrios, Patricia
Aranda, Paulo
Honjo, Rachel
Boy, Raquel
Costa, Ronaldo
Souza, Carolina
Alcantara, Flavio F.
Avilla, Silvio Gilberto A.
Fagondes, Simone
Martins, Ana Maria [UNIFESP]
Rede MPS Brasil
Hospital de Clínicas de Porto Alegre Serviço de Genética Médica
Grupo Hospitalar Conceição
Universidade Federal da Bahia
Universidade Federal do Paraná Hospital das Clínicas
Universidade de São Paulo (USP)
Fundação Oswaldo Cruz Instituto Fernandes Figueira
Universidade de Brasília Hospital Universitário
Pontifícia Universidade Católica
Hospital de Clínicas de Porto Alegre Serviço de Oftalmologia
Universidade Federal do Mato Grosso do Sul
Universidade Estadual de Ciências da Saúde
Hospital Geral Albert Sabin
Universidade Federal de Minas Gerais Escola de Medicina
Hospital de Clínicas de Porto Alegre Serviço de Fisiatria e Reabilitação
Universidade Federal do Rio Grande do Su Faculdade de Medicina
Universidade Federal do Amazonas
Hospital Infantil
Universidade Federal do Mato Grosso do Sul Departamento de Pediatria
Hospital Infantil Pequeno Príncipe
Hospital de Clínicas Unidade de Fisiologia Pulmonar
Hospital da Restauração
Universidade Federal do Rio de Janeiro Instituto Martagão Gesteira
Hospital de Clínicas de Porto Alegre Serviço de Cardiologia
Hospital Evangélico
Universidade Estadual do Rio de Janeiro
Hospital de Clínicas de Porto Alegre Serviço de Anestesiologia e Medicina Perioperativa
Sociedade Brasileira de Patologia Clínica Medicina Laboratorial
Associação Brasileira de Cirurgia Pediátrica
Sociedade Brasileira de Pneumologia e Tisiologia
Universidade Federal de São Paulo (UNIFESP)
Keywords: mucopolisaccharidoses
Hurler syndrome
Hunter syndrome
Maroteaux-Lamy syndrome
enzyme replacement therapy
treatment guidelines
Issue Date: 1-Jan-2010
Publisher: Sociedade Brasileira de Genética
Citation: Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 33, n. 4, p. 589-604, 2010.
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.
ISSN: 1415-4757
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