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, and meats. It is important to find this disease early. To have the disease, you must inherit the gene from each parent.
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. In some areas, the test may be repeated within the first week or two after birth. 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. You do not need to do anything before your baby has this test.
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. Your baby may feel a sting or a pinch with a heel stick. Usually, there are no problems from a heel stick.
A small bruise may develop. A phenylketonuria PKU test is done to check whether a new baby has the enzyme needed to use phenylalanine in his or her body. If the heel stick screening test shows high phenylalanine levels, a blood sample is taken from your baby's vein to confirm whether he or she has PKU. Reasons the results may not be helpful include:.
Author: Healthwise Staff. This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use and Privacy Policy. A phenylketonuria PKU test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in their 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 intellectual disability.
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, and meats. It is important to find this disease early. To have the disease, you must inherit the gene from each parent. 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. A phenylketonuria PKU screening test is done to see whether a newborn baby has the enzyme needed to use phenylalanine in their 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. Phenylalanine is found in all foods that contain protein and also in artificial sweeteners.
The dietary treatment for PKU includes specific medical foods: a phenylalanine-free medical formula that is given regularly throughout the day, as well as foods modified to be low in protein. A registered dietician will help you plan a low-protein diet, that avoids high levels of phenylalanine, and gives your baby the nutrients he or she needs for healthy growth.
As your baby gets older, their doctor may prescribe a medication that contains BH 4. Taking BH 4 supplements may help break down the phenylalanine that builds up. BH 4 does not work in everyone with PKU. A trial period on the drug with evaluation by a physician is necessary. If phenylketonuria PKU is detected at birth, early treatment can prevent the signs of the condition mentioned in the Early Signs section.
This is why it is so important to screen for PKU at birth. If treatment is started after six months of age, babies are at risk for severe intellectual disabilities. It is important to treat PKU, even if treatment is started after noticing signs and symptoms, in order to help prevent permanent brain damage.
When we eat food, enzymes help break it down. Some enzymes break down protein into its building blocks, called amino acids. Other enzymes break down these amino acids. When PAH does not work correctly, the body cannot break down phenylalanine and it builds up in the blood. Everyone has some phenylalanine in their blood, but high levels can be toxic. PKU is an autosomal recessive genetic condition.
This means that a child must inherit two copies of the non-working gene for PKU, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with PKU is rare, when both parents are carriers, they can have more than one child with the condition.
Learn more about autosomal recessive inheritance. Support groups can help connect families who have a child or other family members affected with phenylketonuria PKU with a supportive community of people who have experience and expertise in living with the condition.
These organizations offer resources for families, affected individuals, health care providers, and advocates:. Some children with phenylketonuria PKU have developmental delays. Because PKU is a genetic condition , you may want to talk with a genetics specialist.
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