Hunter syndrome is a rare metabolic disorder that causes bodily changes due to the lack of an enzyme called iduronate-2-sulfatase. It is hereditary and has two types, MPS IIa and IIb, with IIa being more severe and causing developmental regression. There is no cure, and treatment depends on symptom expression. Testing is available for those at risk of carrying the recessive gene.
Hunter syndrome is a very rare and difficult disease that is part of a series of metabolic disorders called mucopolysaccharidosis or MPS. It can also be called MPS II and there are two types of Hunter syndrome called MPS IIa and IIb. In this condition, the body lacks an enzyme called iduronate-2-sulfatase, which helps break down certain substances called glycosaminoglycans. As glycosaminoglycans begin to build up in the body, they cause substantial bodily changes, affecting many of the body’s systems. This disease is also hereditary, passed down from mothers who carry a recessive gene for it to their children, and is therefore called an X-linked recessive disease.
The two types of Hunter syndrome will differ in symptoms and onset. MPS IIa is more severe and symptoms may be noticed when children are between the ages of two and four. MPS IIa is devastating and few people who have the disease live beyond adulthood. It’s also hard for parents to watch children who previously seemed fine lose all the developmental progress they’ve made.
Symptoms of MPS IIa include a gradual loss of developmental gains eventually leading to severe mental retardation. Children may have lesions on the skin, usually on the arms or back, and often show enlarged organs. They have significant differences in how their bones grow and can be much shorter in stature.
A complication of the disease is an enlarged heart, which may require surgery. Given the eventual outcome of the disease, some parents do not opt for the surgery. Ultimately, MPS IIa can cause hearing and vision loss, and children with the disease are also commonly affected by intestinal problems such as diarrhea. Sleep apnea is another problem that can affect many children with Hunter syndrome.
MPS IIb is less severe, and symptoms may be absent until a person is in their late teens, although diagnosis usually occurs when children are ten years or older. People can live into middle age with this disease and are in many ways similar in intelligence to a person without the syndrome, although they may have some difficulty speaking and reading. There are problems with bone growth, short stature and peripheral vision, and there may be hearing loss. Both IIa and IIb can also show enlargement of the facial bones, which can change features. Like people with IIa, people with IIb experience diarrhea and sleep apnea.
There is currently no cure for Hunter syndrome, although it is hoped that a cure will eventually be found through genetic research or some other medical development. Treatment of the syndrome will greatly depend on the expression of symptoms and can be a complex matter, requiring the expertise of a number of specialists. For now, it’s best to try to prevent this condition by determining whether a person is at risk of having a child with Hunter syndrome. There is a test to determine if a woman carries the recessive gene for MPSII. Those who should be tested include anyone who has had Hunter syndrome in their family, even if it occurred in a family member quite distantly or several generations ago.
Protect your devices with Threat Protection by NordVPN
