Hunter syndrome

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Definition Symptoms Causes Risk factors Tests and diagnosis

Complications Treatments and drugs Prevention Coping and support

Definition

Hunter syndrome is an inherited metabolic disorder that occurs when an enzyme your body needs to break down molecules called glycosaminoglycans, or mucopolysaccharides, is either missing or malfunctioning.

Because the body can't break down these complex molecules, they build up in harmful amounts in certain cells and tissues. The buildup that occurs in Hunter syndrome eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.

Hunter syndrome appears in children as young as age 2. It's rare and nearly always occurs in males, although it may occur in females. Hunter syndrome is named after Charles Hunter, a Canadian professor of medicine who first described the disorder in 1917.

Treatment of Hunter syndrome mostly involves management of symptoms and complications. Although there's no cure for Hunter syndrome, enzyme replacement therapy and other emerging therapies may offer more help in the future.

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Symptoms