Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report

Background: Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by defciency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) a...

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Autores: Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, Roberto, Pereira, Catarina, Cozma, Claudia, Grinberg Vaisman, Daniel Raúl, Vilageliu i Arqués, Lluïsa, Lourenco, Charles M.
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/186001
Acceso en línea:https://hdl.handle.net/2445/186001
Access Level:acceso abierto
Palabra clave:Mucopolisacàrids
Terapèutica
Enzims
Mucopolysaccharides
Therapeutics
Enzymes
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spelling Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case reportAndrade, IsadoraRibeiro, RiverCarneiro, Zumira A.Giugliani, RobertoPereira, CatarinaCozma, ClaudiaGrinberg Vaisman, Daniel RaúlVilageliu i Arqués, LluïsaLourenco, Charles M.MucopolisacàridsTerapèuticaEnzimsMucopolysaccharidesTherapeuticsEnzymesBackground: Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by defciency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease. Mucopolysaccharidosis VI induces reduced growth, coarse face, audiovisual defcits, osteoarticular deformities, and cardiorespiratory issues, hampering the quality of life of the patient. Enzyme replacement therapy with galsulfase (Naglazyme, BioMarin Pharmaceuticals Inc., USA) is the specifc treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the efects of long-term enzyme replacement therapy remain poorly understood. Case presentation: A 29-year-old, Caucasian, male patient diagnosed with mucopolysaccharidosis VI was treated with enzyme replacement therapy for over 15 years. Enzyme replacement therapy was initiated when patient was 13 years old. The patient evolved multiplex dysostosis, carpal tunnel syndrome, thickened mitral valve, and hearing and visual loss. Conclusions: Although enzyme replacement therapy did not prevent the main signs of mucopolysaccharidosis VI, it slowed their progression. Additionally, enzyme replacement therapy was associated with a longer survival compared with the untreated afected sibling. Taken together, the results indicate that enzyme replacement therapy positively modifed the course of the disease.BioMed Central2022202220222022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion5 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/186001Articles publicats en revistes (Genètica, Microbiologia i Estadística)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1186/s13256-021-03240-3Journal of Medical Case Reports , 2022, vol. 16, num. 46, p. 1-5https://doi.org/10.1186/s13256-021-03240-3cc-by (c) Andrade, Isadora et al., 2022https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1860012026-05-29T05:05:01Z
dc.title.none.fl_str_mv Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
title Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
spellingShingle Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
Andrade, Isadora
Mucopolisacàrids
Terapèutica
Enzims
Mucopolysaccharides
Therapeutics
Enzymes
title_short Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
title_full Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
title_fullStr Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
title_full_unstemmed Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
title_sort Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report
dc.creator.none.fl_str_mv Andrade, Isadora
Ribeiro, River
Carneiro, Zumira A.
Giugliani, Roberto
Pereira, Catarina
Cozma, Claudia
Grinberg Vaisman, Daniel Raúl
Vilageliu i Arqués, Lluïsa
Lourenco, Charles M.
author Andrade, Isadora
author_facet Andrade, Isadora
Ribeiro, River
Carneiro, Zumira A.
Giugliani, Roberto
Pereira, Catarina
Cozma, Claudia
Grinberg Vaisman, Daniel Raúl
Vilageliu i Arqués, Lluïsa
Lourenco, Charles M.
author_role author
author2 Ribeiro, River
Carneiro, Zumira A.
Giugliani, Roberto
Pereira, Catarina
Cozma, Claudia
Grinberg Vaisman, Daniel Raúl
Vilageliu i Arqués, Lluïsa
Lourenco, Charles M.
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Mucopolisacàrids
Terapèutica
Enzims
Mucopolysaccharides
Therapeutics
Enzymes
topic Mucopolisacàrids
Terapèutica
Enzims
Mucopolysaccharides
Therapeutics
Enzymes
description Background: Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by defciency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) enzyme activity, glycosaminoglycans (mainly dermatan sulfate) accumulates, leading to a multisystemic disease. Mucopolysaccharidosis VI induces reduced growth, coarse face, audiovisual defcits, osteoarticular deformities, and cardiorespiratory issues, hampering the quality of life of the patient. Enzyme replacement therapy with galsulfase (Naglazyme, BioMarin Pharmaceuticals Inc., USA) is the specifc treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the efects of long-term enzyme replacement therapy remain poorly understood. Case presentation: A 29-year-old, Caucasian, male patient diagnosed with mucopolysaccharidosis VI was treated with enzyme replacement therapy for over 15 years. Enzyme replacement therapy was initiated when patient was 13 years old. The patient evolved multiplex dysostosis, carpal tunnel syndrome, thickened mitral valve, and hearing and visual loss. Conclusions: Although enzyme replacement therapy did not prevent the main signs of mucopolysaccharidosis VI, it slowed their progression. Additionally, enzyme replacement therapy was associated with a longer survival compared with the untreated afected sibling. Taken together, the results indicate that enzyme replacement therapy positively modifed the course of the disease.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/186001
url https://hdl.handle.net/2445/186001
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1186/s13256-021-03240-3
Journal of Medical Case Reports , 2022, vol. 16, num. 46, p. 1-5
https://doi.org/10.1186/s13256-021-03240-3
dc.rights.none.fl_str_mv cc-by (c) Andrade, Isadora et al., 2022
https://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc-by (c) Andrade, Isadora et al., 2022
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 5 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv BioMed Central
publisher.none.fl_str_mv BioMed Central
dc.source.none.fl_str_mv Articles publicats en revistes (Genètica, Microbiologia i Estadística)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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