Przypadek mukopolisacharydozy typu VI (choroby Maroteaux-Lamy'ego) - charakterystyka kliniczna

Mucopolysaccharidossis type VI (MPS VI, Maroteaux-Lamy syndrome) belongs to a group of lysosomal storage disorders and is caused by deficient activity of arylsulfatase B (ARSB). The disease is inherited in an autosomal recessive manner. To date, 7 patients with MPS VI have been diagnosed in Poland. Authors present a case of 7.5 -year-old girl presenting a typical early MPS VI phenotype. Screening revealed the presence of dermatan sulphate and enzyme assay confirmed significantly decreased activity of ARSB. In June of 2009, the girl started enzyme replacement therapy with rhASB (recombinant form of arylsulfatase B, galsulfase).