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Enzyme Replacement Therapy With Galsulfase for Mucopolysaccharidosis Type VI
source: The Cochrane database of systematic reviews
year: 2021
authors: Brunelli MJ,Atallah ÁN,da Silva EM
summary/abstract: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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