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Enzyme Replacement Therapy With Galsulfase for Mucopolysaccharidosis Type VI

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source: The Cochrane database of systematic reviews

year: 2021

authors: Brunelli MJ,Atallah ÁN,da Silva EM


Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome is a rare genetic disorder caused by the deficiency of arylsulphatase B. The resultant accumulation of dermatan sulphate causes lysosomal damage. The clinical symptoms are related to skeletal dysplasia (i.e. short stature and degenerative joint disease). Other manifestations include cardiac disease, impaired pulmonary function, ophthalmological complications, hepatosplenomegaly, sinusitis, otitis, hearing loss and sleep apnea. Intellectual impairment is generally absent. Clinical manifestation is typically by two or three years of age; however, slowly progressive cases may not present until adulthood. Enzyme replacement therapy (ERT) with galsulfase is considered a new approach for treating MPS VI.

organization: Universidade Federal de São Paulo, São Paulo, Brazil.

DOI: 10.1002/14651858.CD009806.pub2

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