Hunter Syndrome Signs and Symptoms WisdomCard

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Research Notes on Hunter Syndrome Signs and Symptoms


Hunter syndrome is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S). It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. The symptoms of Hunter syndrome are generally not apparent at birth, but usually start to become noticeable after the first year of life. Often, the first symptoms of Hunter syndrome may include inguinal hernia, ear infection, runny noses, and colds. ...read more from Wikipedia

Fast Facts:

  • A child may also have breathing difficulties, hypertension and other cardiovascular disease due to the thickening of the blood vessel and airway walls.1
  • Physical manifestations of children with Hunter syndrome include prominent forehead, a nose with a flattened bridge, and an enlarged tongue.2
  • Due to these physical manifestations, unrelated children with Hunter syndrome often look alike.2
  • It is important to note that the rate and degree of progression may be different for each person with Hunter syndrome.2

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Research Notes References

  1. Mayo Clinic: Hunter Syndrome Symptoms
  2. 2.0 2.1 2.2 Wikipedia: Signs And Symptoms

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