Phenylketonuria (PKU) Test
phenylketonuria (PKU) test is done to check whether a
newborn baby has the
enzyme needed to use phenylalanine in his or her body.
Phenylalanine is an
amino acid that is needed for normal growth and
development. If a baby's body does not have the enzyme that changes
phenylalanine into another amino acid called tyrosine, the phenylalanine level
builds up in the baby's blood and can cause brain damage, seizures, and
The damage caused by
PKU can begin weeks after the baby has started drinking breast milk or formula. Babies with PKU need foods low in phenylalanine to prevent severe brain damage.
Phenylalanine is found in most foods that have protein, such as milk, cheese,
It is important to find this disease
early. All babies in the United States and Canada are tested for PKU right after birth. To have the disease, you must inherit the
gene from each parent. The
United States Preventive Services Task Force
recommends that all newborns be tested for PKU.1
The blood sample for PKU is usually taken from
your baby's heel (called a heel stick). The test is done in the first few days
after birth, as early as 24 hours after birth. The test may be repeated within the first week or two after birth.
Why It Is Done
A phenylketonuria (PKU) screening test is done to
see whether a newborn baby has the enzyme needed to use
phenylalanine in his or her body. If this test shows that your baby has a phenylalanine problem, the doctor will do further testing to check whether your baby has PKU.
It's important for your baby to have this screening test soon after birth. If a baby has PKU and treatment starts right away, problems (such as brain damage) are less likely to occur.
How To Prepare
You do not need to do anything before your baby has this test.
How It Is Done
Your baby's heel is cleaned with
alcohol, and then the heel is poked with a small needle. Several drops of blood
are collected inside circles on a special piece of paper. When enough blood has
been collected, a small bandage is put on the site.