What Is Phenylketonuria (PKU)?
Phenylketonuria (PKU) is an inherited disorder of metabolism
that causes an increase in the blood of a chemical known as
phenylalanine.
Phenylalanine comes from a person's diet and is used by the
body to make proteins.
Phenylalanine is found in all food proteins and in some
artificial sweeteners. Without dietary treatment, phenylalanine
can build up to harmful levels in the body, causing mental
retardation and other serious problems.
Women who have high levels of phenylalanine during pregnancy
are at high risk for having babies born with mental
retardation, heart problems, small head size (microcephaly) and
developmental delay.
This is because the babies are exposed to their mother's
very high levels of phenylalanine before they are born.
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National Institute of
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National Institute on Drug
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National Institute of Mental
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