Mucopolysaccharidosis type II (Hunter syndrome)
X-vázaně recesivní
Deficiency of iduronate-2-sulfatase causes glycosaminoglycan storage with coarse features, enlarged liver and spleen, joint stiffness, airway and heart disease and, in the severe form, cognitive decline.
Co se diagnózou změní
Enzyme replacement therapy (idursulfase) is available, and identifying carrier women allows family testing and reproductive planning.
Analyzované geny
Známé také jako
attenuated MPS (subtype; formerly known as mild MPS II); Hunter syndrome; Hunter's syndrome; I2S deficiency; IDS deficiency; iduronate 2-sulfatase deficiency; MPS 2; MPS II; MPS with skin involvement; MPS2; MPSII; mucopolysaccharidosis II, X-linked recessive; Mucopolysaccharidosis Type II; mucopolysaccharidosis with skin involvement; mucopolysaccharidosis, type 2; severe MPS II; SIDS deficiency; sulfoiduronate sulfatase deficiency
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- mucopolysaccharidosis type 2, attenuated form
- mucopolysaccharidosis type 2, severe form
