Posted by: keherenf | March 8, 2008

Hunter Syndrome

Although I try to cover diseases that affect a large amount of people, I will always write about any personal requests I receive. Yesterday I received one for a very rare genetic disease called Hunter Syndrome.

In order to understand this syndrome, it is necessary to have a basic understanding of what an enzyme is. Imagine a key and a lock. Each lock can only work successfully with one particular key…even if there was only one slight difference, the key would not work. An enzyme is the key and the lock is a cell in the body. The enzyme is designated to one particular type of cell, and when they interlock, they are able to perform the chemical reaction that they are designed for.

Pathology: Hunter Syndrome occurs when the enzyme designed to break down complex sugar molecules called glycosaminoglycans or mucopolysaccharides either do not work or do not exist. Because the enzyme is not present to break down these complex molecules, they begin to build up in different cells and tissues, creating a toxic effect.

This syndrome is a genetic disorder which is linked to the X chromosome. Because it is linked to the X, nearly all individuals affected by this syndrome are male. Females typically tend to only be carriers.



Child Onset:

  • mental retardation
  • hyperactivity
  • aggressiveness
  • ivory colored skin lesions on the back, arms, and thighs
  • skeletal changes
  • visual impairment
  • growth delays
  • compromised cardiac (heart) functioning

Adult Onset:

  • Mild or no mental deficiency


  • Coarse facial features
  • Large head
  • Stiff joints
  • Extra hair
  • Deafness
  • Enlargement of internal organs
  • Carpal tunnel syndrome

Treatment: There is currently only one treatment that is FDA approved for Hunter Syndrome. The medication is called Elaprase, and it is given through an IV. This treatment replaces the enzymes that do not work adequately, which would theoretically reduce the toxic buildup of the complex molecules.

Prognosis: If the Syndrome develops at an early age, the current life expectancy is between 10-20 years. If it develops at an older age or in a much milder form, the current life expectancy is between 20-70 years.

Epidemiology: Every ethnic group gets equally diagnosed with Hunter Syndrome, with a slightly higher incidence in Jewish populations living in Israel.

Mortality (# of deaths): The more severe type of Hunter Syndrome always leads to death.

Morbidity (# of incidences): Anywhere between 1 in 65,000 births to 1 in every 132,000 births.

For More Information:

Mayo Clinic

National Institute of Health

Rare Diseases



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