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Fifteen Years of Enzyme Replacement Therapy for Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): A Case Report

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source: Journal of medical case reports

year: 2022

authors: Andrade I,Ribeiro R,Carneiro ZA,Giugliani R,Pereira C,Cozma C,Grinberg D,Vilageliu L,Lourenco CM


Mucopolysaccharidosis VI, or Maroteaux-Lamy disease, is an autosomal recessive disease characterized by deficiency 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 deficits, 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 specific treatment for this condition. Although studies have shown that enzyme replacement therapy slows the progression of the disease, the effects of long-term enzyme replacement therapy remain poorly understood.

organization: Faculdade de Medicina, Centro Universitário Estácio de Ribeirão Preto, Rua Abrahão Issa Halach, 980, Ribeirânia, Ribeirão Preto, SP, 14096-160, Brazil.

DOI: 10.1186/s13256-021-03240-3

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