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What is Hunter Syndrome?

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah-rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAGs.

In Hunter syndrome, GAGs build up in cells throughout the body due to the enzyme iduronate-2-sulfatase (I2S) not working properly or missing altogether. This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms.

Hunter syndrome affects at least 1/162,000 male live births. It is inherited as an X-linked recessive disease. This means that the abnormal I2S gene is located on the X chromosome. Females have two X chromosomes, one inherited from each parent. Males, on the other hand, have one X chromosome that they inherit from their mother and one Y chromosome that they inherit from their father.

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah-rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAGs.

In Hunter syndrome, GAGs build up in cells throughout the body due to the enzyme iduronate-2-sulfatase (I2S) not working properly or missing altogether. This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms.

Hunter syndrome affects at least 1/162,000 male live births. It is inherited as an X-linked recessive disease. This means that the abnormal I2S gene is located on the X chromosome. Females have two X chromosomes, one inherited from each parent. Males, on the other hand, have one X chromosome that they inherit from their mother and one Y chromosome that they inherit from their father.

Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah-rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAGs.

In Hunter syndrome, GAGs build up in cells throughout the body due to the enzyme iduronate-2-sulfatase (I2S) not working properly or missing altogether. This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms.

Hunter syndrome affects at least 1/162,000 male live births. It is inherited as an X-linked recessive disease. This means that the abnormal I2S gene is located on the X chromosome. Females have two X chromosomes, one inherited from each parent. Males, on the other hand, have one X chromosome that they inherit from their mother and one Y chromosome that they inherit from their father.

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MPS Day 2016

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