Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)
R Martin, M Beck, C Eng, R Giugliani, P Harmatz… - …, 2008 - publications.aap.org
Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disorder
caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a
step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II,
glycosaminoglycans accumulate within tissues and organs, contributing to the signs and
symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic
systems and has a variable age of onset and variable rate of progression. Common …
caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyzes a
step in the catabolism of glycosaminoglycans. In patients with mucopolysaccharidosis II,
glycosaminoglycans accumulate within tissues and organs, contributing to the signs and
symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic
systems and has a variable age of onset and variable rate of progression. Common …
