Hunter syndrome, also known as mucopolysaccharidosis II (MPS II) is a rare X-linked genetic disorder that primarily affects males. Hunter syndrome occurs in approximately 1 in 162,000 male live births and is caused by a deficiency or absence of the enzyme iduronate 2-sulfatase (I2S) which results in a build up of glycosaminoglycans (GAGs) in cells throughout the body.
The accumulation of GAGs interferes with the way certain cells and organs in the body function and can lead to a number of serious symptoms including hearing loss, declined cardiac function, obstructive airway disease, enlargement of the liver and spleen and decreased range of motion and mobility. Physical manifestations may include distinct facial features, a large head and enlarged abdomen. In many cases the central nervous system may also be affected. Hunter syndrome does not manifest the same way in all people; the rate of symptom progression varies widely, but in all cases it is a serious, progressive, life limiting disorder.
Resources and Organizations
The following organizations may be a resource for information and support for patients, families, and caregivers.
International MPS Network
The official body of patient associations representing MPS and MPS Societies at a European and global level.
National MPS Society
Support for families and individuals affected by MPS and related diseases in the US.
INTSP/C-ANPROM/HS/15/0043, May 2015