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What Is Hunter Syndrome?


What is Hunter Syndrome? Hunter Syndrome (also known as mucopolysaccharidosis II or MPS II) is a disorder that occurs when an enzyme the body needs is either missing or it does not work properly. If the body does not have enough enzymes, it cannot break down the kind of sugar that builds bones, skin, tendon, and other tissue. Hunter syndrome eventually causes permanent, progressive damage affecting the appearance, mental development, organ function, and physical abilities of a child.


This rare genetic disorder affects mostly males as young as 18 months and has no known cure. The current treatment for Hunter Syndrome involves the management of symptoms, but it has many complications.

What are the symptoms of Hunter Syndrome?

The symptoms of Hunter Syndrome vary person to person. It’s not always present at birth, but indications of this syndrome are known to show up between 2 and 4 years of age. If the symptoms occur at an early age it is usually more severe.

what is Hunter Syndrome InfoGraphic

What causes MPS II?

Children who suffer from Hunter Syndrome inherit the disease from their parents. When a chromosome is missing or malfunctioning, it is usually because the mother was carrying MPS II. However, a father suffering from Hunter Syndrome can also pass it to his daughter who will eventually pass it to her son.



What is Hunter Syndrome?

What is Hunter Syndrome?

  • Hunter syndrome, also known as mucopolysaccharidosis type II, or MPS 2, is a rare, hereditary metabolic disorder that primarily affects males; it is often severe and almost always progressive.
  • In people with MPS syndrome, the  iduronate-2-sulfatase (IDS) enzyme, which  breaks down complex sugars, is missing or not working properly.
  • This leads to an abnormal buildup of complex sugars in tissues throughout the body, including the brain, skeleton, joints, spinal cord, heart spleen, or liver.
  • Physical symptoms include growth delay, joint stiffness and coarsening of facial features
  • When severe, MPS disease can cause respiratory and cardiac problems, enlargement of the liver and spleen, and premature death.
  • Hunter syndrome can also cause neurological deficits that can lead to progressive dementia and a progressive decrease in IQ points.