What To Think About
- When the PKU test is done within 24 hours of birth, there is a small chance that the test result will not be accurate . Your baby may need to be tested again. There is less chance of a false result if the test is done between 24 and 72 hours after birth.
- If your baby has PKU, he or she will need regular blood tests to check phenylalanine levels. These tests may occur as often as once a week in your baby’s first year and then once or twice a month throughout childhood.
- Blood tests for phenylalanine may be done if you have PKU and plan to become pregnant. If you eat too much protein, you will have high levels of phenylalanine in your blood. If you become pregnant, the high levels of phenylalanine could cause your baby to have intellectual disability, even if your baby does not have PKU.
- If your baby has PKU, a special low-protein diet is needed to prevent intellectual disability. Your baby will drink milk substitutes that do not contain phenylalanine. People with PKU need to stay on a low-protein diet for life to prevent problems.
Why It Is Done
A phenylketonuria 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 are less likely to occur.
How To Support A Child Living With Pku
It is challenging to live with a PKU child. Below are some strategies that can be tried.
PKU is a lifelong condition. However, with some planning and the right guidance, you can overcome the challenges and make life easy for your PKU kid and yourself. Continuously research this topic and consult your doctor, dietitian in a scheduled & timely manner. Maintain the food trackers and perform routine PKU screening. All this put together will help your PKU child lead a healthy life.
Also Read:
Recommended Reading: How Many Soiled Diapers Should A Newborn Have
What Are Newborn Screening Tests
Nearly all babies will have a simple blood test to check for disorders that are not apparent immediately after delivery. Some of these disorders are genetic, metabolic, blood, or hormone-related. Each state in the United States requires screening tests, but the specific tests performed vary among the states.
A heel-prick is used to sample the baby’s blood. The blood drops are collected in a small vial or on a special paper. The blood is then sent for testing. The baby’s heel may have some redness at the pricked site, and some babies may have bruising, but this usually disappears in a few days.
Newborn screening tests may include:
Other tests screen for disorders including cystic fibrosis, amino acid disorders, fatty acid oxidation disorders, hemoglobin disorders, lysosomal storage disorders, organic acid disorders, and severe combined immunodeficiency.
Most screenings cannot be performed until a baby has received at least 24 hours of breast milk or formula. Your baby may need follow-up testing if you are discharged before this time or the baby is unable to be tested before discharge.
Most states screen for hearing loss and critical congenital heart defects.
How Is It Treated
If your child has PKU, they need to be on a special, lifelong diet thatâs low in Phe. You should start them on it as soon as possible, ideally within a week or 10 days of birth.
Your baby will be put on a Phe-free infant formula. They may be able to have some breast milk, too.
Some kids need a stricter diet than others. A dietitian with expertise in PKU can make an eating plan specific to your child so they grows and thrives.
Your child probably will need to eat carefully measured portions of fruits, vegetables, and low-protein cereals, bread, and pasta.
Foods with higher levels of Phe generally are off-limits. These include:
- Foods or drinks with the artificial sweetener aspartame
Since your childâs diet is limited, theyâll need to drink a special formula that contains protein and other nutrients they need.
Regular blood tests and doctor visits help to show whether the diet is working.
Some people take a medicine that helps process Phe such as sapopterin . Itâs more likely to work in those with mild or special forms of PKU. Your child will continue their special meal plan, but they may have a bit more freedom while taking the medication.
The control of phenylketonuria levels is a lifelong process. Adults with uncontrolled high concentrations of PKU can be treated the medication pegvaliase-pqpz to help reduce levels.
Show Sources
Don’t Miss: How To Make Newborn Sleep In Crib
What Does Screening Mean
The term screening refers to checking people who appear healthy for a specific condition. Screening sorts people into two groups:
- People unlikely to have the condition. Most people fall into this group. Members of this group do not need more testing. Their chance of having the condition, also called their risk for the condition, is low.
- People more likely to have the condition. Fewer people fall into this group. Members of this group need more testing to tell for sure if they have the condition. Their chance of having the condition, also called their risk for the condition, is higher than that for people in the first group.
Common examples of health screening are a mammogram , colonoscopy , and Pap smear . These screens do not tell for sure if someone has breast, colon, or cervical canceronly that they might have it and need more tests to know for sure. Screening helps people with these conditions to find out and get treatment early, when treatment usually works best.
Similarly, NBS checks a baby for certain conditions present at birth that benefit from early treatment or intervention. Newborn screening consists of three parts:
Does Adhd Can Be Detected In Newborn Screening
It can be difficult to diagnose a child with ADHD before the age of 45 years, especially as there are no specific diagnostic criteria for toddlers and babies. If parents or caregivers suspect that a child has ADHD, they should seek advice from a doctor. The doctor will first rule out other conditions.
You May Like: How Much Formula Should I Feed A Newborn
How The Test Is Performed
Screenings are done using the following methods:
- Blood tests. A few drops of blood are taken from the baby’s heel. The blood is sent to a lab for analysis.
- Hearing test. A health care provider will place a tiny earpiece or microphone in the infant’s ear. Another method uses electrodes that are put on the baby’s head while the baby is quiet or asleep.
- CCHD screen. A provider will place a small soft sensor on the baby’s skin and attach it to a machine called an oximeter for a few minutes. The oximeter will measure the baby’s oxygen levels in the hand and foot.
Normal And Abnormal Phenylalanine Levels In Infants
The blood phenylalanine concentration in newborns is normally 0.5 mg to 1 mg per dL . In general, few infants with PKU will remain unidentified when a phenylalanine cut-off value of 2 mg per dL in the first 24 hours is used. Not all states, however, use 2 mg per dL as the cut-off value. Forty states and jurisdictions use 4 mg per dL as the screening cut-off value for PKU, six states use 3 mg per dL and seven states use 2 mg per dL.10 Some newborns without PKU have transiently elevated phenylalanine levels of more than 6 mg per dL related to delayed maturation of enzymes required for amino acid metabolism. Blood phenylalanine levels are generally slightly lower in breast-fed infants than in bottle-fed infants. Breast milk contains only 12 to 14 mg of phenylalanine per ounce, compared with 24 to 28 mg per ounce in formula.
You May Like: Why Do Newborns Have Seizures
What Is Classic Phenylketonuria
Classic phenylketonuria is an inherited condition that prevents the body from processing proteins correctly. Your body breaks down the protein that you eat into parts called amino acids. Your body then uses those amino acids to make other proteins that it needs to function.
PKU is a form of hyperphenylalaninemia. Hyperphenylalaninemia results in high levels of an amino acid called phenylalanine in the body.
Babies with PKU are unable to make an enzyme called phenylalanine hydroxylase correctly. This enzyme helps change phenylalanine into another amino acid called tyrosine.
PKU can be more or less severe depending on how well PAH can break down phenylalanine. When the body does not make PAH correctly, but it can still process some phenylalanine, this results in a condition called non-PKU hyperphenylalaninemia. When PAH is missing or damaged, phenylalanine is not broken down and starts to build up in the body. This more severe condition is known as PKU.
High levels of phenylalanine can damage the body, including the brain. If untreated, this damage leads to the signs and symptoms of the condition. However, with early diagnosis and treatment, children with PKU can have near-normal health and development.
How To Get Your Baby Screened
Your Lead Maternity Carer or midwife will discuss newborn metabolic screening with you during your pregnancy. You will be offered screening for your baby when aged 48 hours. If you have any questions about screening, have a look at theFrequently asked questionson this site, if there is no answer you can submit a question from that page.
Recommended Reading: What To Do When Newborn Is Constipated
Maintain Track Review And Measure
It is crucial to keep track and record every bit of food eaten every day by the baby. Sticking to the dieticians diet plan and guidelines will go a long way in managing the treatment. Buy food measuring cups, measuring spoons, and a kitchen scale to measure the exact portion of food that needs to be given to the baby. The amount of phenylalanine consumed needs to be calculated every day. Divide the portion of each snack and meal to consume food with normal PKU levels.
The Importance Of Metabolic Screening
Experts agree that the benefits of newborn metabolic screening outweigh any risk. Newborn metabolic screening helps both parents and society as a whole. For many diseases, such as PKU, catching them early on means you can make dietary changes to make sure that your baby lives a healthy, normal life.
As a parent, the best thing you can do is stay informed. Before your baby is born, ask your healthcare provider about the tests that will be done and what choices are available should one of them come back positive.
Read Also: Why Do Newborns Get Eczema
Did You Know That
- While most babies look healthy, there are some disorders that aren’t visible.
- Early treatment of these disorders can prevent potentially serious complications which can cause permanent damage to the baby or even death.
- To screen for these disorders, a sample of blood is collected from the baby’s heel.
- The screening is free to babies born in New Zealand. Information on eligibility is available at on the Ministry of Health website.
This six-minute DVD explains how screening can indicate if your baby has an increased chance of rare disorders. If any problem is found, your baby can receive the best possible treatment.
How Do They Test For Pku In Newborns
A PKU test is done a day or two after your baby’s birth. The test is done after your baby is 24 hours old and after your baby has ingested some protein in the diet to ensure accurate results. A nurse or lab technician collects a few drops of blood from your baby’s heel or the bend in your baby’s arm.
Read Also: How Can I Get My Newborn Birth Certificate
Storage And Uses Of Leftover Blood Spots
When your baby has the test, you will need to decide whether the leftover blood spots are stored or returned to you after screening.
Stored leftover blood spots may be used for the purposes below. These uses are rare, but they can help families/whnau and the programme.
Any blood left over after screening may be used:
- for repeat testing if a baby has a disorder but did not have a positive screening result, the blood sample can be tested again to see why this happened
- to make improvements to screening programme tests
- to investigate unexplained illness or death in the individual or family/whnau
- for forensic use . Access to blood spot cards by New Zealand Police is rare and only as a last resort. It is governed by a Memorandum of Understanding.
- for research approved by an ethics committee and by the Ministry of Health as an appropriate use of residual blood spot samples. Residual blood spots collected prior to June 2011 also require written consent from each individual for use in research.
Why Does My Baby Need A Pku Screening Test
Newborns in the United States are required to get a PKU test. A PKU test is usually part of a series of tests called a newborn screening. Some older infants and children may need testing if they were adopted from another country, and/or if they have any symptoms of PKU, which include:
- Delayed development
- A musty odor in the breath, skin, and/or urine
- Abnormally small head
Don’t Miss: How Long Can You Let A Newborn Cry
Results For Pku Tests Usually Take About Two To Three Weeks If Results From One Of The Tests Comes Back Positive It Means That One Of The Tests Came Back Outside The Normal Range
Some doctors may also characterize this result as failing, abnormal or out-of-range.
A positive result does not automatically mean that a baby has PKU. What is means is that more testing is warranted and should be performed as soon as possible 4.
Follow-up testing will involve checking the babys urine and blood samples for harmful levels of acids and toxins. If a baby does have PKU, then a treatment plan can be put in place immediately to minimize the impacts of the disorder.
There are instances when follow-up diagnostic testing shows that the baby does not have PKU. When this happens, it means that the initial test produced a false positive result.
False positive test results can happen because screening tests are designed to identify as many babies affected with treatable diseases as possible. It is more important initially to make sure that a screening does not miss any affected babies, so some babies who are unaffected may also end up with a positive result.
In some other cases, test results may be inconclusive or labeled as a borderline result. When this happens, a doctor may repeat the test to get a more accurate result.
If a babys results show certain signs of PKU, a doctor may recommend starting immediate treatment that may include the doctor and a dietician monitoring a babys protein intake to ensure that their blood Phe level is stabilized. Keeping it at an optimal level ensures appropriate growth and development.
Why Is The Pku Test Done
This test may be necessary for your child because detecting and treating phenylketonuria can help them avoid intellectual disability and other developmental difficulties.
- Your child is more likely to have a healthy life if they eat a low-protein, low-phenylalanine diet in their first weeks of life and afterward.
- Although most newborns with PKU are discovered soon after birth, any child with an intellectual handicap or who is developmentally delayed should be screened for PKU.
- In the first year of life, some babies adopted from foreign countries may need to be tested for PKU and other genetic diseases.
- A PKU test is done for all newborns in the United States.
Recommended Reading: How To Get Newborn Into A Routine
What If My Newborn Tests Positive For Pku
If your newborn’s screening test comes back positive for PKU, your child will need additional tests to confirm that he or she definitely has the disorder. It is very important to follow your health care providers’ instructions for further tests. These tests may be blood or urine tests that may show whether or not the child has PKU. If your child does have PKU, getting treatment quickly will help protect your child’s health.3
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.4
What Is A Pku Screening Test
A PKU screening test is a blood test given to newborns 2472 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine . Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame.
If you have PKU and eat these foods, Phe will build up in the blood. High levels of Phe can permanently damage the nervous system and brain, causing a variety of health problems. These include seizures, psychiatric problems, and severe intellectual disability.
PKU is caused by a genetic mutation, a change in the normal function of a gene. Genes are the basic units of heredity passed down from your mother and father. For a child to get the disorder, both the mother and father must pass down a mutated PKU gene.
Although PKU is rare, all newborns in the United States are required to get a PKU test.
- The test is easy, with virtually no health risk. But it can save a baby from lifelong brain damage and/or other serious health problems.
- If PKU is found early, following a special, low-protein/low-Phe diet can prevent complications.
- There are specially-made formulas for infants with PKU.
- People with PKU need to stay on the protein/low-Phe diet for the rest of their lives.
Other names: PKU newborn screening, PKU test
Don’t Miss: When Is A Newborn’s First Doctors Appointment