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

By Roberto Giugliani, Andressa Federhen, Maria Verônica Munõz Rojas, Taiane Alves Vieira, Osvaldo Alfonso Pinto Artigalas, Louise Lapagesse de Camargo Pinto, Ana Cecília Medeiros Mano Azevedo, Angelina Xavier Acosta, Carmem Maria Sales Bonfim, Charles Marques Lourenço, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Denize Bonfim, Denise Y.J. Norato, Diane Ruschel Marinho, Durval 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 Soares de Fraga, José Eduardo Coutinho Góes, José Maria Cabral, José Simionato, Juan Clinton Llerena Junior, Laura Bannach Jardim, Liane de Rosso Giuliani, Luiz Carlos Santana da Silva, Mara Lúcia Ferreira Santos, Maria Ângela Fontoura Moreira, Marcelo Kerstenetzky, Márcia Gonçalves Ribeiro, Nicole Ruas, Patricia Martins Moura Barrios, Paulo Cesar Aranda, Raquel S. Honjo, Raquel Boy, Ronaldo David da Costa, Carolina Fischinger Moura de Souza, Flavio F. Alcântara, Sylvio Gilberto A. Avilla, Simone Chaves Fagondes and Ana Maria (Medicina) Martins

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

Topics: Mucopolisaccharidoses, Mucopolissacaridose I, Hurler syndrome, Mucopolissacaridose II, Hunter syndrome, Mucopolissacaridose VI, Maroteaux-lamy syndrome, Enzyme replacement therapy, Treatment guidelines
Year: 2011
OAI identifier: oai:agregador.ibict.br.PC_UFRGS:oai:www.lume.ufrgs.br:10183/34295
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