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

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

doi:10.1590/s1415-47572010005000093

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

Published in Genetics and Molecular Biology • Nov 12, 2010

Authors:

Roberto Giugliani

Andressa Federhen

María Verónica Muñoz Rojas

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 multi...

Subject

Enzyme replacement therapy

Hunter syndrome

Disease

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