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Definition
By Mayo Clinic staffHunter syndrome is a rare genetic disorder that occurs when an enzyme your body needs is either missing or malfunctioning.
Because the body doesn't have adequate supplies of the enzyme to break down certain complex molecules, the molecules 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 nearly always occurs in males, although it may occur in females.
Treatment of Hunter syndrome mostly involves management of your symptoms and complications. Enzyme replacement therapy and other emerging therapies may offer more help in the future.
