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What should I know about Homocystinuria?
Below are some frequently asked
questions. If the information contained on this page does not answer all
of your questions or you would just simply like more information, please check
out the Clinical Description & Related
Links pages or contact us with your specific question.
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Q. What is Homocystinuria? |
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A.
Homocystinuria is a treatable disorder that affects the way the body processes
protein.
Children with homocystinuria cannot use a part of the protein called
methionine.
If left untreated, methionine and related molecules build up in the
bloodstream and lead to brain damage and other disabilities. |
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Q. What happens to methionine in a child with homocystinuria? |
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A.
In a child with homocystinuria, methionine cannot be converted to cysteine
because one of the needed enzymes does not work properly.
This results in large amounts of methionine and related molecules, which
are toxic to the brain and nervous system. |
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Q. What are the effects of having homocystinuria if it is not
treated? |
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A.
Without treatment, about half of people with homocystinuria die, usually from
blood clots that block normal blood flow.
Untreated homocystinuria can result in mental retardation and other
problems of the nervous system.
It can also result in eye problems and skeletal abnormalities. |
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Q. What is the treatment for homocystinuria? |
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A.
Some people with homocystinuria respond to vitamin B6 (pyridoxine).
Those who do not respond to this treatment are placed on a special diet
that is low in methionine.
To prevent mental retardation and developmental disability, treatment
must begin shortly after birth.
People with homocystinuria require specialized treatment through a clinic
with experience in treating this disorder. |
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Q. Why would a child have homocystinuria? |
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A.
Homocystinuria is an inherited disorder.
It results when a baby receives a double-dose of a specific non-working
gene involved in methionine conversion (one from each parent).
For more information about this, contact your health care provider or a
genetic counselor. |
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