Hunter Syndrome - Medtick
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Hunter Syndrome

What is it?

A genetic condition storage disease disorder  where the enzyme called enzyme iduronate-2-sulfatase is deficient or one does not have the ability to make it or  its not working as it should.

There are two types of Hunter syndrome—early-onset and late.

Early onset 

  • Usually diagnosed in children aged 18 to 36 months.
  • Life expectancy for this form can vary, with some children living until their second and third decades of life.

Late onset 

  • Milder than early-onset and may not be diagnosed until adulthood.
  • Individuals with the late form of the disease have a much longer life expectancy and may live into their 70s.
  • Their physical features are similar to those with severe MPS II; however, people with the late version of MPS II usually have normal intelligence and are lacking the severe skeletal problems of the more severe type.

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Cause

  • Pass down through X-linked chromosomes – the mutated, or defective, gene is located on the X chromosome.
  • The X and Y chromosomes are probably best known for their role in determining a baby’s gender as male or female. Females have two X chromosomes while males have one X chromosome and one Y chromosome. However, the X and Y chromosomes have many other genes on them in addition to those that determine the sex of a child. In the case of Fabry disease, the X chromosome carries the defective gene which encodes the enzyme.
  • Men with this disease pass their X chromosome to all of their daughters such that all daughters of affected men will carry the gene for this disease.
  • Affected men do not pass this disease gene to any of their sons, because sons, by definition, receive their father’s Y chromosome and cannot inherit Fabry disease from their father.
  • When a woman with this gene has a child, there is a 50:50 chance she will pass her normal X chromosome to the child. There is also a 50% chance that each child born to a woman with the this gene will inherit the affected X chromosome and have the this gene.

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Symptoms

Early onset symptoms

  • Coarse facial features
  • Short stature?
  • Progressive and profound mental retardation?
  • ivory-colored skin lesions on the upper back and sides of the upper arms and thighs?
  • skeletal changes, joint stiffness, short neck, broad chest, and too-large head?
  • progressive deafness?
  • Atypical retinitis pigmentosa and visual impairment
  • Enlarged liver and spleen?

Late onset symptoms

  • Milder symptoms of the above without coarse features and one has normal intelligence?

Complications /Information to beware of/General tips:

This condition can lead to:

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

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