This short video provides an overview of Mucopolysaccharidosis II (MPS II), or Hunter syndrome.
- Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle glycosaminoglycans or GAGs.
- In MPS II, GAGs build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S). This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms, such as declined cardiac function, obstructive airway disease, joint distortion and enlarged organs, to name a few.
- In many cases, central nervous system involvement leads to developmental delays and nervous system problems.
- MPS II is always severe, progressive, and life-limiting. It is a rare disease and one of several related lysosomal storage disorders (LSDs).
- There are approximately 2000 cases of MPS II worldwide