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Q. What is phenylketonuria or PKU? |
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A.
Phenylketonuria (PKU) is a treatable disorder that affects the way the body
processes protein.
Children with PKU cannot use a part of the protein called phenylalanine.
If left untreated, phenylalanine builds up in the bloodstream and causes
brain damage.
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Q. What happens to phenylalanine in a child with PKU? |
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A.
In a child with PKU, phenylalanine cannot be converted to tyrosine because the
phenylalanine hydroxylase enzyme does not work properly.
This results in dangerously high levels of phenylalanine that build up in
the blood and become toxic to the brain and nervous system.
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Q. What are the effects of having PKU? |
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A.
Untreated PKU results in severe mental retardation and other problems of the
nervous system.
Q. What is the treatment for PKU? |
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A.
Phenylketonuria is treated with a special diet that is low in phenyalanine.
To prevent mental retardation, treatment must begin shortly after birth.
Since protein is essential for normal growth and development, the child
must continue on a special formula that provides protein and essential
nutrients, but contains little or no phenylalanine.
People with PKU require specialized treatment through a clinic with
experience in treating this disorder.
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Q. Why would a child have PKU? |
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A.
Phenylketonuria is an inherited disorder. It
results when a baby receives a double-dose of a non-working phenylalanine
hydroxylase gene (one from each parent). For
more information about this, contact your health care provider or a genetic
counselor.
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