Mucopolysaccharidosis type II (Hunter syndrome)
X-kromoszómához kötött recesszív
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.
Mit változtat a diagnózis
Enzyme replacement therapy (idursulfase) is available, and identifying carrier women allows family testing and reproductive planning.
Vizsgált gének
Más néven
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
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- mucopolysaccharidosis type 2, attenuated form
- mucopolysaccharidosis type 2, severe form
