[Overview of enzyme replacement therapy in mucopolysaccharidosis].
Mucopolysaccharidosis are rare, multisystemic and progressive diseases with an extremely various clinical spectrum. For the type I, II and VI mucopolysaccharidosis, enzyme replacement therapy is available. In these three diseases, enzyme replacement therapy induces a reduction in urinary glycosaminoglycanes excretion and on improvement in functional tests, 6 minutes walk test, pulmonary function test and range of motion.
Fouilhoux
Alain
A
Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Edouard-Herriot, Lyon (69), France. alain.fouihoux@chu-lyon.fr
Guffon
Nathalie
N
D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D007066:Iduronate Sulfatase / Q000627:therapeutic use*; D007068:Iduronidase / Q000627:therapeutic use*; D009083:Mucopolysaccharidoses / Q000628:therapy*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000627:therapeutic use*; D011994:Recombinant Proteins / Q000627:therapeutic use
D006025:Glycosaminoglycans; D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase; C508864:galsulfase; D007066:Iduronate Sulfatase; D007068:Iduronidase