How is pku diagnosed

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.

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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. What Affects the Test Reasons the results may not be helpful include: Your baby was born early premature. A baby who weighs less than 5 lb 2. Your baby has been drinking milk for less than 24 hours.

At the hospital, blood and urine tests will be conducted to determine the exact type of PKU and the treatment needed. The main treatment for phenylketonuriais is avoiding foods with high protein and taking special medical formula as prescribed. People with PKU should follow a low-phenylalanine diet for the rest of their lives, even if symptoms do not surface.

Foods high in phenylalanine include foods such as:. If your child has also been given a trial of the PAH co-factor medication known as sapropterin Kuvan and found to be responsive, he or she may also be on this drug.

PKU is a uniquely challenging disease, which requires your child to stay disciplined and follow the diet every day, for the rest of his life. Our team of nurses and nutritionists can help you come up with strategies to help your child be able to comply with the diet, and our psychologists can help your child cope with the daily stress of managing his diet.

The diet is expensive but is usually covered by health insurance or public health programs. Our social workers will help you understand what financial support you're entitled from your private insurer, the Public Health Department, or Medicaid. Learn more about the patient and family resources available at Boston Children's. Your health care providers may also suggest genetic testing to look at the mutations in genes that cause PKU.

This testing is not required to figure out whether your child has PKU, but it will help identify the specific type of genetic mutation causing the disorder. This information may be useful for determining the best treatment plan going forward.

Missed cases are considered to be extremely rare. Because of these rare cases, health professionals recommend PKU testing if a person of any age has developmental delays or an intellectual disability. To perform this test, a health care provider takes some cells, either through a needle inserted into the abdomen or a small tube inserted into the vagina.

A genetic counselor who understands the risks and benefits of genetic testing can help explain the choices available for testing. What if my newborn tests positive for PKU? Citations Close Citations Medline Plus.