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Homocystinuria

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by Alan R
 

Symptoms

The number and severity of symptoms vary. Symptoms may include:
  • Nearsightedness and other visual problems
  • Flush across the cheeks, fair complexion
  • Seizures
  • Tall, thin build
  • Delays in growth
  • Long limbs
  • High-arched feet
  • Knock-knees
  • Abnormal formation of the rib cage
  • Protrusion of the chest over the sternum
  • Developmental delays
  • Intellectual disability
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Homocystinuria may have serious complications, such as the development of blood clots. This could lead to a stroke, heart attack, or severe high blood pressure .
 

Treatment

There is no specific cure for homocystinuria. Treatment is focused on managing the levels of methionine. It should begin as early as possible. Treatment may include medication and/or a special diet.

Medication

Many people respond to high doses of vitamin B6. The supplement will be needed for the rest of your life. A normal dose of folic acid supplement is helpful. Other medications may also be occasionally needed.

Special Diet

A special diet may help people who don't respond to or don't respond fully to vitamin B6 treatment. Starting the diet early in life can help prevent intellectual disability and other complications. In general, the diet:
  • Restricts foods with methionine
  • Consists mainly of fruits and vegetables
  • Allows little, if any, meats, eggs, dairy products, breads, and pastas
 

RESOURCES

Genetics Home Reference
http://ghr.nlm.nih.gov

National Organization for Rare Disorders, Inc.
http://www.rarediseases.org

 

CANADIAN RESOURCES

Health Canada
http://www.hc-sc.gc.ca

Service Canada
http://www.servicecanada.gc.ca

 

References


Homocystinuria. EBSCO DynaMed website. Available at: https://dynamed.ebscohost.com/about/about-us. Updated August 28, 2011. Accessed August 13, 2013.


Homocystinuria. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition=homocystinuria. Published August 12, 2013. Accessed August 13, 2013.


Homocystinuria. National Organization for Rare Disorders, Inc. website. Available at: http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/463/viewAbstract. Accessed August 13, 2013.

 

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