Mucopolysaccharidosis type II, Iduronate sulfatase deficiency
Genetic counseling is recommended for prospective parents with a family history of Hunter syndrome. Prenatal testing is available. Carrier testing for female relatives of affected males is available at a few specialized centers.
Muenzer J, Wraith JE, Beck M, et al. A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med. 2006 Aug;8(8):465-73.