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Hunter Syndrome |
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Hunter Syndrome An X-linked recessive lysosomal storage disease type of inborn error of metabolism [MIM 309900] due to a deficit of iduronate-2-sulfatase, resulting in an accumulation of glycosaminoglycans
Management Nothing has proven effective Hunter syndrome Mucopolysaccharidosis type II Molecular medicine An X-R inborn error of metabolism caused by a deficit of sulfoiduronate or iduronosulfate sulfatase Clinical Type A–early onset is associated with a large skull, coarse
facial features, profound mental retardation, spasticity, stiffness, aggressive behavior; type B is milder Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content. |
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