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Phenylketonuria (PKU)

  • PKU (phenylketonuria) is a genetically determined metabolic disorder that is highly treatable with diet and supplements. It is an inherited disease in which the body cannot metabolize an amino acid called phenylalanine. Normally phenylalanine is metabolized and converted into tyrosine, another amino acid, but if it stays as phenylalanine, there will be too much of it, and high levels of phenylalanine are harmful to the brain. Following the prescribed diet for PKU is a lifelong endeavor that requires a lot of support from family and your health care provider. If your child is able to strictly follow the diet and supplement regimen, he should be able to live a full, active life.

    • About one in 15,000 babies is born with PKU in the United States.
    • PKU leads to a build-up of the amino acid phenylalanine, which is toxic to the nervous system.
    • Without treatment, PKU can cause intellectual disabilities.
    • PKU does not shorten life expectancy, with or without treatment.
    • Newborn screening for PKU is required in all 50 states.
    • PKU is usually identified by newborn screening.
    • A child’s outlook is very good if she strictly follows the diet.
    • If treatment begins no later than 2 to 3 weeks of a baby’s life, and the diet is strictly followed, the child with PKU can be normal.
    • There are no gender differences in risk factors or severity of PKU.

    How Children’s Hospital Boston approaches PKU

    The Metabolism Program at Children’s Hospital Boston, part of the Division of Genetics, takes a comprehensive, multidisciplinary approach to testing for and treating children with PKU. Our dedicated team of physicians, nutritionists, nurses, laboratory technicians, social workers and psychologists are committed to helping children with this highly treatable condition. PKU requires life-long care, and our multidisciplinary team will work with you and your child to help him grow into a healthy adult.

    PKU camp

    Children’s Hospital Boston has teamed up with the New England Consortium of Metabolic Programs  and the South Shore YMCA to run a PKU camp, where children with PKU can learn the newest PKU management strategies, meet other kids with PKU and enjoy activities such as sailing, tennis, performing arts or horseback riding.

    Phenylketonuria: Reviewed by Harvey Levy, MD
    © Children’s Hospital Boston, 2012


    Boston Children's Hospital 
    300 Longwood Avenue, Hunnewell-3
    Fegan 10
    Boston MA 02115

     857-218-4636
     fax: 617-730-0466
  • Here at Children’s Hospital Boston, our multidisciplinary team is ready to help you and your child with the challenges of having phenylketonuria(PKU). Learning more about PKU will help your child and whole family learn to live a healthy, active life with PKU.

    What is PKU?

    PKU is a genetically inherited metabolic disorder in which the body lacks the enzyme, phenylalanine hydroxylase (PAH), which is responsible for metabolizing the amino acid called phenylalanine. PAH normally breaks down phenylalanine into another amino acid called tyrosine. In people with PKU, phenylalanine builds up in the blood and then crosses into the brain, where it is toxic and causes damage.

    Will my child be OK?
    If your child begins treatment within in the first weeks of life, and strictly follows the low-phenylalanine diet as prescribed by your doctor, your child should be able to live a normal life and not be limited intellectually or physically.

    What are the risks if it’s not treated right away?

    If PKU is not treated early in infancy, there is a high risk the child will develop intellectual disabilities. The longer the child goes untreated, the higher the risk.

    Is it curable?
    There currently is no cure for PKU, but the condition is controllable through proper diet and supplements.

    What kinds of diets do children with PKU need to adopt?

    PKU is caused by the body’s inability to metabolize phenylalanine, which is found in high protein foods such as poultry, meat, eggs and dairy products. The PKU diet includes foods that are low in protein, such as fruits and vegetables, as well as low protein products made especially for people with PKU, such as low protein bread and pasta.  A special medical food that contains other amino acids but no phenylalanine is a critical part of the PKU diet.

    Is there a medication that may help children with PKU?

    The PAH enzyme that changes phenylalanine to tyrosine uses a biochemical co-factor called BH4, which helps the PAH enzyme make this change. Some children with PKU who are on a diet may benefit from a medication form of BH4, called Kuvan, which can lower phenylalanine levels in the blood, and may allow a patient to eat more natural sources or protein. Your child might be prescribed Kuvan  to determine if it will make the diet easier.

    How common is PKU?

    About one in every 15,000 babies in the United States is born with PKU.

    Who is at risk for PKU?

    PKU is present in almost all societies but is very rare among those of African-American heritage and certain Asian countries (e.g., Japan, Thailand, Korea). Those of Irish heritage as well as those with Turkish background have the highest risk..

    Signs and symptoms

    The signs and symptoms of PKU are not apparent at birth, but babies with PKU do show signs within a few months. Before signs are apparent, however, the brain may already be  damaged, so treatment needs to begin during the first weeks of life before this happens  Symptoms of PKU can include:

    • IQ loss
    • severe intellectual disabilities
    • skin rashes (eczema)
    • pale skin and blue eyes
      • Phenylalanine usually turns into melanin which gives color to hair and skin tone.
      • PKU prevents phenylalanine from turning into melanin.
    • seizures

    Do symptoms go away after treatment?

    If treatment is administered within the first few weeks after birth, there should be no symptoms if the diet that is prescribed is strictly followed. Symptoms might develop if the patient stops following the diet.

    FAQ

    Q: How serious is PKU?

    A: PKU is very serious if treatment is not started for within the first 2 to 3 weeks of life. Although symptoms may not be visible, exposure to high levels of phenylalanine after 2 to 3 weeks can have long lasting negative effects such as intellectual challenges. Untreated PKU can lead to intellectual disabilities. If PKU is treated right away and your child strictly follows the prescribed low-phenylalanine diet, your child should enjoy a normal quality of life.

    Q: What is maternal PKU?

    A: If a woman with PKU is not following a strict low phenylalanine diet during pregnancy, her baby may suffer from intellectual disabilities, heart defects and a small head (microcephaly), even though her baby may not inherit PKU. Women looking to become mothers should follow a low-phenylalanine diet beginning before pregnancy to prevent their baby from suffering from PKU in the mother.

    Q: What is treatment like?

    A: The main treatment for PKU is following a strict diet that eliminates high protein food such as, meat and dairy products and introduces a special formula. Additionally, your child needs to come to Children’s regularly for PKU checkups and to test his blood phenylalanine. We will work with you and your child to establish a diet he can be on for life.

    Q: What are some potential side effects of the PKU diet?

    A: If your child follows the diet correctly to get all the nutrients he needs, there should not be any side effects.

    Q: If my child has PKU, what are the odds that he or she will have a baby with PKU?

    A: The answer depends on who your child has a baby with. PKU is a recessive disease, meaning that the child with PKU gets two abnormal genes, one from each parent. If your child has a baby with someone who does not have a PKU gene (has two normal genes) none of the babies will have PKU.  If your child has a baby with someone who carries a gene for PKU (meaning that the person does not have PKU but has one gene for PKU and one normal gene) they have a 50% chance of having a baby with PKU.  However, if the person also has PKU, all of their babies will have PKU. .

    What are potential side effects from treatment??

    Following the strict diet can be difficult, and may lead to stress and anxiety. If it is followed correctly there should not be any physical effects on the body.

    How severe could my child’s intellectual disabilitiesbe if he lapses from the diet?

    If your child lapses from the diet, this could result in intellectual disabilities depending on how long the lapse is, how old your child is and the severity of your child’s PKU.

    Questions to ask your doctor

    The PKU diet is complicated and hard to manage. It’s a good idea to ask as many questions as you can during your appointment.

    Here are some questions to get you started:

    • What exactly can my child eat and not eat?
    • What supplements will he take?
    • What advice can you give on helping my child stick to his diet?
    • What’s a simple way my child can explain PKU to his friends?
    • Will my child need to avoid certain medications if he gets sick?
    • How can I help my child cope?
      Legislation against using the “r” word.
      PKU can lead to permanent intellectual disabilities if it’s not treated. Brian Skotko, MD, MPP, shares the good news about Massachusetts banning the use of the words “mental retardation” in Massachusetts state laws. Learn more, and join the conversation and Children’s Thriving blog.
  • Newborn screening for PKU is required in all 50 states of the United States. This is because treatment needs to begin within the first weeks of life in order for the child to live a full life. A baby that tests positive for PKU by newborn screening may be referred to Children’s by their primary care doctor. At the hospital, blood and urine tests will be conducted to determine the exact type of PKU and the treatment needed.

    Newborn Screening

    • It is the first level of testing.
    • New England Newborn Screening Program screens all babies in New England
    • Testing occurs within two days after birth.
    • High phenylalanine with low tyrosine levels indicates PKU.
    • Babies testing positive for PKU have their results sent to a physician who refers the baby to Children’s, or a hospital like Children’s, for confirmation.

    Metabolic disorder blood test

    • It’s used to confirm the Newborn Screening test results.
    • It’s conducted by the Metabolism Program at Children’s.
    • A needle is used to draw blood from the baby’s arm.
    • Test is done within the first week after birth, or earlier.
    • Analyzes the levels of amino acids, including phenylalanine and tyrosine.
    • High levels of phenylalanine indicate PKU.
    • A urine specimen is collected by applying a special collection bag to the baby’s bottom.
  • The main treatment for phenylketonuriais 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:

    • beef
    • fish
    • chicken
    • eggs
    • milk
    • chocolate
    • cheese
    • beans
    • nuts
    • peas
    • soybeans
    • diet sodas
    • The artificial sweeteners, aspartame, contains phenylalanine.

    Individuals with PKU often are allowed these foods in their diets in moderation:

    • cereals
    • breads
    • pastas
    • rice
    • fruits
    • vegetables
    • milk substitutes

    Those with PKU must also take:

    • Phenylalanine-free baby formula or continuation of breast feeding supplemented with special formula.
    • Special medical formula for children and adults which contains either free amino acids but not phenylalanine or glycomacropeptide which has very little phenylalanine

    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.

    Coping & support

    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 Children's.

    Getting your child to eat vegetables

    Vegetables are a great way to get some of the nutrients your child needs as he follows a low- phenylalanine diet. See how Claire McCarthy, MD helps make vegetables  an attractive alternative for her children. Read more on join the conversation on Children's Thriving blog.

  • Children’s Hospital Boston has the world’s largest research program at a pediatric hospital, and we’re known for pioneering new treatments. A large part of our success comes from our commitment to research—and to advancing the frontiers of what’s possible through our innovative approach.

    PKU

    Children’s is a leading center in studies of new treatments for PKU.  It was the major center of the study that showed the benefit of Kuvan for those children with PKU who respond to this co-factor treatment. Currently, Children’s is a major participant in three additional studies of Kuvan.

    Maternal PKU

    Pregnant women with high levels of phenylalanine are at high risk for having babies with birth defects such as intellectual disabilities and congenital heart disease. PKU treatment during pregnancy during pregnancy can prevent this from happening. For the past 20 years, Children’s has studied a group of children who were not born with PKU, but whose mothers have PKU. This is paving the way for researchers to share valuable insight about maternal PKU treatment and prevention.

    PKU research at Children’s Metabolism Program

    Children’s Hospital Boston is at the forefront of PKU research, investigating complex topics such as maternal PKU and alternative therapies for PKU. Read more about the research underway at Children’s Metabolism Program.

     

  • Caroline Queally

    Hello, my name is Caroline Queally.  I am 10 years old and I have Phenylketonuria (it’s much easier to say PKU, for short). PKU is a rare medical condition that can seriously affect your brain development and muscular growth if you eat foods that are too high in protein.

    When I was just 6 days old, my mom received a call from Dr. Deborah Marsden of Children’s Hospital.  Dr. Marsden explained that as a result of the heel prick blood test that I had at the hospital where I was born, this newborn screening test discovered that I had a condition that affects only 1 in 15,000 babies in the United States.  

    From that point on, my parents and I visited Children’s Hospital once a week for the first year of my life.  That’s when I met one of my heroes, Dr. Harvey Levy. Dr. Levy told my parents that I would be just fine as long as I followed a very strict diet and drank a very special kind of milk. 

    Because I eat the right foods and drink my milk, I do very well in school and I am just like every other kid.  I attend a French Immersion school, and have been fluent in French since I was just 6 years old.  PKU doesn’t stop me from doing my favorite activities such as surfing, playing the flute, acting in theater, visiting Disney and playing with friends.  I also love to watch the Food Network, and have learned to change most recipes to be PKU-friendly. 

    Over the years, Dr. Levy has become my very good friend, and in fact, I now help him teach a Genetics class at Harvard Medical School!  I love sitting in front of the class with my parents and Dr. Levy.  It’s fun telling the students all about PKU. They have some great questions, and I hope that one of those students helps to find a cure for PKU someday.  

    Children’s Hospital has helped me so much.  Besides Dr. Levy, I have a wonderful team of nutritionists including Fran Rohr and Ann Munier who are really good at making sure I am eating the right things and drinking the milk that helps me to develop properly.  I love visiting Children’s Hospital now at least once a year.  Everyone is so kind, and I even don’t mind getting my blood drawn by Nina who has also known me since I was just one week old! 

    In a way, Children’s Hospital is just like family to me.  If my mom didn’t get that phone call when I was just a few days old and without the care I have received since at Children’s Hospital, I wouldn’t even have been able to write this story (and now I can even write it in French.   Words cannot express how very grateful my family and I are to Dr. Levy and the rest of our "family" at Children's Hospital.

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