Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
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 multi...
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ir-10482-278512019-03-28T14:02:22Z Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment Giugliani, Roberto Federhen, Andressa Muñoz 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 Correa Neto, Jordão Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Jr., 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 Mucopolissacaridoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines 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. 2017-12-07T04:54:34Z 2017-12-07T04:54:34Z 2010 Artigo Genet. Mol. Biol.,v.33,n.4,p.589-604,2010 1415-4757 http://repositorio.unb.br/handle/10482/27851 10.1590/S1415-47572010005000093 en Acesso Aberto application/pdf Sociedade Brasileira de Genética http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000400001&lng=en&nrm=iso http://www.scielo.br/scielo.php?script=sci_abstract&pid=S1415-47572010000400001&lng=en&nrm=iso http://www.scielo.br/scielo.php?script=sci_pdf&pid=S1415-47572010000400001&lng=en&nrm=iso |
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REPOSITORIO UNB |
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REPOSITORIO UNB |
| language |
English |
| topic |
Mucopolissacaridoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines |
| spellingShingle |
Mucopolissacaridoses Hurler syndrome Hunter syndrome Maroteaux-Lamy syndrome enzyme replacement therapy treatment guidelines Giugliani, Roberto Federhen, Andressa Muñoz 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 Correa Neto, Jordão Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Jr., 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 Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| description |
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. |
| format |
Artigo |
| author |
Giugliani, Roberto Federhen, Andressa Muñoz 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 Correa Neto, Jordão Fraga, José Carlos Goes, José Eduardo Cabral, José Maria Simionato, José Llerena Jr., 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 |
| author_sort |
Giugliani, Roberto |
| title |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| title_short |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| title_full |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| title_fullStr |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| title_full_unstemmed |
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment |
| title_sort |
mucopolysaccharidosis i, ii, and vi: brief review and guidelines for treatment |
| publisher |
Sociedade Brasileira de Genética |
| publishDate |
2017 |
| url |
http://repositorio.unb.br/handle/10482/27851 |
| _version_ |
1641988184742035456 |
| score |
13.657419 |