Hunter syndrome (also known as Mucopolysaccharidosis type II) is X-chromosome linked disease which mainly effects male population. Hunter syndrome can be of 2 types. The early progressive type which involves central nervous system affects cognitive functions, airways, heart and blood vessels, leading to death in first 10 or 20 years. The slowly progressive type in which central nervous system is minimally involved although there is accumulation of a carbohydrate, known as glycosaminoglycan, which can damage other organs of the body. In slowly progressing form, normal intelligence and survival is common in early adulthood.1

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Can Hunter Syndrome Go Away On Its Own?

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Can Hunter Syndrome Go Away On Its Own?

Hunter syndrome cannot go away on its own. DNA testing may help in early diagnosis of this disease, if done in when child is still in mother’s womb. Other examinations like blood and urine test are done to confirm the diagnosis. Presence of glycosaminoglycans in urine is the most appropriate predictor of this disease. Blood and skin test can show if the enzyme deficiency in Hunter’s syndrome thereby confirming the diagnosis.2

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Babies born with Hunter’s syndrome appear normal at birth but slowly symptoms begun to appear. Hunter syndrome can be revealed in patients between 1.5 to 4 year children, presenting as short height, simultaneous enlargement of both the liver and the spleen, tightening and shortening of joints, facial impairment like enlarge head and flat nose, repeated ear or sinus infections, and hernia of umbilical cord.1

No complete cure currently exists of Hunter’s syndrome and this defect is present from the birth. If you are suffering from disease, the chances of its reversing back are next to zero.3 This birth defect presents with lack of an enzyme (enzyme iduronate sulfatase) which is responsible for breaking down of complex sugar molecules, leading to accumulation in the body. This results in organ and brain damage. The aim of the treatment is to manage the symptoms of this disease thereby preventing long-term organ damage. Enzyme replacement therapy can aid in slowing down this disease. Bone marrow transplant is another option to halt the progression of this disease. Physical exercises are also advised to increase the mobility of joints which become stiff in this condition. Apart from these, certain medications and surgery is also an option to manage the symptoms associated with Hunter’s syndrome.2

References:  

  1. Scarpa M. Mucopolysaccharidosis Type II. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2007 Nov 6 [updated 2018 Oct 4].
    Joseph R, DiCesare EB, Miller A. Hunter Syndrome: Is It Time to Make It Part of Newborn Screening? Adv Neonatal Care. 2018 Dec;18(6):480-487.
  2. Can Hunter Syndrome Be Reversed & What Is Its Treatment? Adapted from: https://www.epainassist.com/genetic-disorders/can-hunter-syndrome-be-reversed [accessed on 20/04/2019]

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Sheetal DeCaria MD

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Last Modified On: June 3, 2019

This article does not provide medical advice. See disclaimer

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