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

2010; Brazilian Society of Genetics; Volume: 33; Issue: 4 Linguagem: Inglês

10.1590/s1415-47572010005000093

1678-4685

Roberto Giugliani, Andressa Federhen, María Verónica Muñoz Rojas, Taiane Alves Vieira, Osvaldo Alfonso Pinto Artigalás, Louise L. C. Pinto, Ana Cecília Azevedo, Angelina Xavier Acosta, Carmen Bonfim, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Denize Bonfim, Denise Norato, Diane Ruschel Marinho, Durval Batista Palhares, Emerson Santana Santos, Erlane Marques Ribeiro, Eugênia Ribeiro Valadares, Fábio Coelho Guarany, Gisele Rosone de Lucca, Helena Pimentel, Isabel Neves de Souza, Jordão Corrêa Neto, José Carlos Fraga, José Eduardo Goes, José Maria Cabral, José Simionato, Juan Clinton Llerena, Laura Bannach Jardim, Liane de Rosso Giuliani, Luiz Carlos Santana da Silva, Mara Lúcia Schmitz Ferreira Santos, Maria Angela Moreira, Marcelo Kerstenetzky, Márcia Gonçalves Ribeiro, Nicole Ruas, Patrícia Barrios, Paulo Cesar Aranda, Rachel Sayuri Honjo, Raquel Boy, Ronaldo Campelo da Costa, Carolina Batista de Souza, Flavio F. Alcantara, Silvio Gilberto A. Avilla, Simone Chaves Fagondes, Ana Maria Martins,

Carbohydrate Chemistry and Synthesis

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.