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Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report
Author(s) -
Muenzer J,
Lamsa JC,
Garcia A,
Dacosta J,
Garcia J,
Treco DA
Publication year - 2002
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2002.tb03118.x
Subject(s) - hunter syndrome , enzyme replacement therapy , mucopolysaccharidosis type ii , medicine , glycosaminoglycan , recombinant dna , enzyme , mucopolysaccharidosis , lysosomal storage disease , urinary system , genetic enhancement , disease , endocrinology , biochemistry , biology , gene , anatomy
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked disease caused by a deficiency of the enzyme iduronate‐2‐sulphatase (IDS), which results in the lysosomal accumulation of glycosaminoglycans (GAG). This paper describes a knockout mouse model of MPS II which has been used to assess the effect of enzyme replacement therapy. Therapy with IDS results in a marked decrease in urinary GAGs, as well as reduced GAG accumulation in several tissues. These studies have been used to support the first clinical trial of recombinant IDS in patients with Hunter syndrome.