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

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

Author Giugliani, Roberto Google Scholar
Federhen, Andressa Google Scholar
Munoz Rojas, Maria Verônica Google Scholar
Vieira, Taiane Google Scholar
Artigalás, Osvaldo Google Scholar
Lapagesse Pinto, Louise Google Scholar
Azevedo, Ana Cecília Google Scholar
Acosta, Angelina Google Scholar
Bonfim, Carmen Google Scholar
Lourenço, Charles Marques Google Scholar
Chong Ae, Kim Google Scholar
Horovitz, Dafne Google Scholar
Bonfim, Denize Google Scholar
Norato, Denise Google Scholar
Marinho, Diane Google Scholar
Palhares, Durval Google Scholar
Santos, Emerson Santana Google Scholar
Ribeiro, Erlane Google Scholar
Valadares, Eugênia Google Scholar
Guarany, Fábio Google Scholar
Lucca, Gisele Rosone De Google Scholar
Pimentel, Helena Google Scholar
Souza, Isabel Neves de Google Scholar
Corrêa Neto, Jordão Autor UNIFESP Google Scholar
Fraga, José Carlos Google Scholar
Goes, José Eduardo Google Scholar
Cabral, José Maria Google Scholar
Simionato, José Google Scholar
Llerena Junior, Juan Google Scholar
Jardim, Laura Google Scholar
Giuliani, Liane Google Scholar
Silva, Luiz Carlos Santana da Google Scholar
Santos, Mara L. Google Scholar
Moreira, Maria Angela Google Scholar
Kerstenetzky, Marcelo Google Scholar
Ribeiro, Márcia Google Scholar
Ruas, Nicole Google Scholar
Barrios, Patricia Google Scholar
Aranda, Paulo Google Scholar
Honjo, Rachel Google Scholar
Boy, Raquel Google Scholar
Costa, Ronaldo Google Scholar
Souza, Carolina Google Scholar
Alcantara, Flavio F. Google Scholar
Avilla, Silvio Gilberto A. Google Scholar
Fagondes, Simone Google Scholar
Martins, Ana Maria Autor UNIFESP Google Scholar
Institution 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)
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 mucopolisaccharidoses
Hurler syndrome
Hunter syndrome
Maroteaux-Lamy syndrome
enzyme replacement therapy
treatment guidelines
Language English
Date 2010-01-01
Published in Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 33, n. 4, p. 589-604, 2010.
ISSN 1415-4757 (Sherpa/Romeo, impact factor)
Publisher Sociedade Brasileira de Genética
Extent 589-604
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000286321000001
SciELO ID S1415-47572010000400001 (statistics in SciELO)

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