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Sanfilippo syndrome

Related Terms

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Background

  • Sanfilippo syndrome is an inherited disease that belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS type 3. Mucopolysaccharides are complex sugar molecules that are constantly used and broken down in the body. In 1963, Dr. Sylvester Sanfilippo was one of the first doctors to describe Sanfilippo syndrome.
  • In individuals with Sanfilippo syndrome, one of the enzymes that break down heparan sulfate, a carbohydrate, or complex sugar molecule, that inhibits blood clotting, is missing or malfunctioning. This causes heparan sulfate to buildup to abnormally high levels in lysosomes, which are the compartments in the cell responsible for breaking down and disposing of cell waste. Waste products that buildup in lysosomes are excreted in the urine, so individuals with Sanfilippo syndrome tend to have high levels of heparan sulfate in their urine.
  • Because of the buildup of heparan sulfate, cells do not function properly. Symptoms of Sanfilippo syndrome include problems with the heart, bones, joints, and lungs. As the disease progresses, this buildup of heparan sulfate in nerve cells causes serious problems resulting from the failure of the nervous system.
  • It is estimated that Sanfilippo syndrome affects one out of every 80,000 births. Males and females are affected in equal numbers. The disease may not be apparent at birth. Signs and symptoms progress with age as heparan sulfate accumulates and damages cells and organs. Most people with Sanfilippo syndrome live into their teenage years. Some patients live longer, while others with severe forms die at an earlier age from complications.
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Risk Factors

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Causes

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Signs and Symptoms

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Types of the Disease

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Diagnosis

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Complications

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Treatment

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Integrative Therapies

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Prevention

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Author Information

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References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

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The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.