Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited disorder in which the body cannot break down an amino acid called phenylalanine, which is a part of protein. If treatment is not started soon after birth, phenylalanine levels rise and can cause lasting brain and nervous system damage, such as intellectual disability.
Symptoms of PKU usually appear within a few months of birth, after phenylalanine has built up in a baby's blood. Before birth, the mother's body filters out the excess phenylalanine for the baby (fetus).
Early symptoms may include:
- A musty odor to the skin, hair, and urine.
- Weight loss from vomiting and frequent diarrhea.
- Irritability.
- Skin problems.
- Sensitivity to light.
Screening for PKU is routinely done shortly after birth, making early diagnosis and treatment possible.
People with PKU must follow a diet low in protein throughout life. Women of childbearing age with PKU must carefully manage their phenylalanine levels to prevent harm to their baby should they become pregnant. Babies born to mothers who have high phenylalanine levels during pregnancy are at risk for intellectual disability and other developmental problems.
What are the symptoms of phenylketonuria (PKU)?
If phenylketonuria (PKU) is not found and treated soon after birth, symptoms usually start to appear within a few months after birth. (It takes time for the phenylalanine to build up in the baby's body.)
Early symptoms of PKU in a baby may include:
- A musty odor to the skin, hair, and urine.
- Skin problems.
- Being sensitive to light.
Without early treatment, the child may have growth problems, developmental delays, seizures, and severe intellectual disability.
What is the treatment for adults with phenylketonuria (PKU)?
People who have phenylketonuria (PKU) need to follow a reduced-protein diet throughout their lives. For a few people, treatment with sapropterin (Kuvan) may help when used with a PKU diet. Talk to your doctor about the pros and cons of this medicine.
You'll need regular blood tests to check your phenylalanine level. If the level builds up, it can affect your IQ and your ability to learn, think, and understand.
Any woman with PKU who is planning to have a baby needs to be very careful to control her phenylalanine levels. Babies born to mothers who have high levels of phenylalanine are at risk for having a very small head, intellectual disability, growth problems, and heart problems. Having regular blood tests and following the PKU diet before and during pregnancy can help protect the baby.
How is phenylketonuria (PKU) diagnosed?
Screening is recommended for all newborns within a few days after birth.
If the phenylketonuria (PKU) screening test shows that your baby has a phenylalanine problem, the doctor will do further testing to check whether your baby has PKU.
Finding and starting treatment for PKU early usually can prevent brain damage and other long-term problems.
How can you care for yourself when you have phenylketonuria (PKU)?
Work with your doctor and follow your treatment plan, such as eating a reduced-protein diet. Take any medicines as prescribed. Get regular blood tests as scheduled by your doctor. If you are pregnant or planning a pregnancy, talk with your doctor about ways to help protect your baby.
What causes phenylketonuria (PKU)?
Phenylketonuria (PKU) is passed down through families. To have the disease, a baby must get (inherit) the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families. A baby who gets the gene from only one parent is a carrier of the PKU gene but does not have the disease.
If you have a child with PKU and are thinking about having another baby, you may want to get genetic counseling. If you have a family history of PKU, talk with your doctor about genetic testing if you want to find out whether you carry the gene.
What is phenylketonuria (PKU)?
Phenylketonuria (PKU) is a rare genetic condition in which the body cannot break down an amino acid called phenylalanine (say "fehn-uhl-AL-uh-neen"), which is a part of protein. This substance is found in breast milk, many types of baby formula, and most foods, especially those with a lot of protein, such as meat, eggs, and dairy products. If PKU is not treated, phenylalanine can build up in the blood and lead to intellectual disability and problems with the central nervous system (brain and spinal cord).
Early treatment can help prevent most problems. Babies born with PKU need to start treatment soon after birth.
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