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Is Hunter Syndrome A Serious Condition?

Hunter syndrome is an X-linked disorder that is transmitted through mother. It is a chromosomal disease in which defective genes are passed from the mother to her children. These defective genes hamper the production of the enzyme named iduronate 2-sulfatase. This enzyme is needed to break down complex carbohydrate molecules. The deficiency or absence of this enzyme results in accumulation of such complex molecules on the various parts of the body. It leads to symptoms like enlarged head, thick lips, hoarseness in voice, enlarged abdomen, chronic diarrhea, developmental delay, and many more. It is incurable and it reduces the life expectancy of the affected person. Its symptoms and complications are manageable.

Is Hunter Syndrome A Serious Condition?

The effects of Hunter syndrome are different in different individuals. It can affect the life expectancy of the affected person. It depends on the type of Hunter syndrome developed in the patient. It can be a serious condition when it involves the heart and lungs in severe cases. It is seen in early-onset MPS II or severe form of this disease. It is given the name early -onset as its symptoms appear early in children at the age of 18-36 months. Life expectancy of the child may go up to second to third decades of life. It may involve various organs of the body and can cause serious complications.

Its symptoms include-

  • Thickened facial features such as thick lips, thick nose
  • Short height
  • Enlarged head, liver or spleen
  • Progressive mental retardation
  • Skin lesions on the upper back, arms, and thighs
  • Skeletal irregularities
  • Slow hearing loss
  • Visual disturbances

In severe form of Hunter syndrome, the disease may progress to heart and respiratory complications that may cause permanent damage in the heart and lungs. This can be serious and fatal.(1)

Respiratory Complications -It may interrupt the normal process of breathing. The child becomes susceptible to catch chronic sinus and ear infections, pneumonia and respiratory infections. It may also lead to frequent blockage of airway obstruction during sleep.

Cardiac Complications –This disease may lead to the interference with the closing of heart valves and sometimes narrowing of the aorta and other blood vessels. Improper closure of heart valves causes an insufficient supply of blood. It may result in heart failure.(3)

Thus, hunter syndrome or MPS II may cause serious illness that impacts the life expectancy of the child. The child cannot survive more than 10-20 years after the appearance of the symptoms.

Hunter syndrome is also known as mucopolysaccharidosis type II or MPS II. It is an X-linked disorder that leads to the deficiency of an enzyme meant to the breakdown of complex carbohydrates and mucopolysaccharides. It leads to the buildup of these molecules in the organs and tissues. This may damage the organs and result in toxicity. It is caused due to defective genes in X chromosomes. This disease is more commonly seen in boys than in girls. It can develop in any ethnic group. However, it is more observed in Jewish people who live in Israel.(1)

What Leads To Hunter Syndrome?

Hunter syndrome is an inherited disorder. The defective genes are passed on to the children through their mother. If defective genes are passed from the father to the children, the children will develop this disease only when defective genes are passed from the mother.

The defective genes can cause accumulation of the complex sugar molecules in the different parts of the body that may result in permanent damage to these parts.


Hunter syndrome develops due to the buildup of complex sugar molecules in various organs. It affects children. Its severe form or early onset type may cause serious complications as the complex molecules to build up in the vital organs such as the heart, lungs, and brain that can damage these organs permanently. Heart failure and obstruction of breathing can lead to death.


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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:May 22, 2019

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