Understanding Hunter syndrome

Last updated at 13:30 27 July 2004

Hunter syndrome is a rare inherited condition with no cure. In its severest form can result in death for children as young as 10.

The disease, which is carried by the mother and passed to her son, causes a deficiency in the body of an enzyme called iduronate sulphate sulphatase.

This enzyme is vital for breaking down long chains of sugar molecules called Mucopolysaccharides (MPS).

Without it, these molecules build up until they reach toxic levels in the body.

There are two forms of Hunter syndrome - the early onset severe form and the mild form which takes effect later in life.

The severe form tends to affect young boys, who begin to show a range of distressing symptoms usually from the age of about two years old onwards.

Children with the severe form often show high levels of mental retardation, aggressive behaviour and hyperactivity.

Symptoms common to both forms of the disease include coarse facial features, large head, stiffening of the joints, progressive deafness and larger than normal internal organs such as the liver and spleen.

According to the MPS Society, which provides support for more than 1,000 sufferers of related diseases and their families, Hunter syndrome affects one in 150,000 people.

There is no cure for Hunter syndrome and life expectancy for the severe form is 10-20 years.

The symptoms are treated as they appear and efforts are being made to come up with a way of replacing the missing enzyme.

Adults with the mild form, which leads to much lower levels of mental deficiency and fewer behavioural problems, can live relatively normal lives into their 60s and beyond.

The MPS Society web site says: "It is devastating news for parents to learn that their child has Hunter disease and some time may pass before it is clear how severely affected the child will be.

"It is important to remember that the disease is very varied in its effects and that your child will not necessarily have all the symptoms described.

"While no magic cure exists, there are many ways of helping children and adults to enjoy their lives and to manage the problems they may have."

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