Herbs and flavorings low in phenylalanine can pack a flavorful punch. Just remember to measure and count every ingredient and adjust recipes to your individualized diet. If you have any other health conditions, you may also need to consider those when you plan your diet.
Talk with your doctor or dietitian if you have any questions. Phenylketonuria is generally diagnosed through newborn screening. Once your child is diagnosed with PKU, you'll likely be referred to a medical center or specialty clinic with a doctor who specializes in treating PKU and a dietitian with expertise in the PKU diet. Here's some information to help you get ready for your appointment and know what to expect from your doctor. Your doctor is likely to ask you several questions.
Be ready to answer them to reserve time to go over points you want to focus on. For example, your doctor may ask:. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Diagnosis Newborn blood testing identifies almost all cases of phenylketonuria. More Information Genetic testing.
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Share on: Facebook Twitter. Show references National Library of Medicine. Genetics Home Reference. Accessed Oct. National Organization for Rare Disorders. Learning about phenylketonuria PKU. National Human Genome Research Institute.
Each gene is responsible for sending a message that tells the cells how to make a particular product. The PKU gene tells the cell to make an enzyme that breaks down the amino acid phenylalanine. Faults in the genes mutations may cause problems in the body because the correct message is not being sent.
In PKU, the cells are not making the enzyme that breaks down phenylalanine, so it builds up in the blood and tissues. There are two copies of every gene in each cell-one copy we get from our mother and the other copy we get from our father. If a person has one normal copy and one faulty copy of the PKU gene, they are called carriers. Carriers of PKU are healthy because the normal copy overrides the faulty gene. This means the cells produce enough enzymes to prevent the build-up of phenylalanine.
When both parents are carriers of the faulty PKU gene, their child will be born with PKU if they receive one copy of the faulty gene from each parent. When both parents are carriers, the possibilities in each pregnancy are:. A baby with PKU will need to be on a special milk formula. As the child gets older, they will need a diet that is low in phenylalanine. Regular blood tests are needed to monitor the level of phenylalanine in the blood.
This special diet is essential during childhood to prevent damage to the brain while it is still growing. The diet should be continued throughout life to optimise school performance, concentration and the ability to think clearly. This page has been produced in consultation with and approved by:. During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood.
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. 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. 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. 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. Learn how we develop our content.
To learn more about Healthwise, visit Healthwise. Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated. Updated visitor guidelines. Top of the page. Test Overview A phenylketonuria PKU test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. 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.
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. How It Feels Your baby may feel a sting or a pinch with a heel stick. Risks Usually, there are no problems from a heel stick. A small bruise may develop. Results A phenylketonuria PKU test is done to check whether a new baby has the enzyme needed to use phenylalanine in his or her body.
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