Children's Health

What is phenylketonuria (PKU)?

Phenylketonuria (PKU) is a rare genetic disorder 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).

The good news is that early treatment can prevent all or most problems. Babies born with PKU need to start treatment with special formula soon after birth.

What causes PKU?

PKU is passed down through families. To have the disease, a baby must get the gene from both parents. If a baby gets the gene from only one parent, he or she 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 are the symptoms?

If 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.
• Losing weight from vomiting and diarrhea.
• Acting fussy.
• Being sensitive to light.

Without early treatment, the child may have growth problems, developmental delays, seizures, and severe intellectual disability.

How is PKU diagnosed?

Screening is recommended for all newborns within a few days after birth.¹ This simple blood test may be repeated within the first week or two after birth.

Finding and starting treatment for PKU early usually can prevent brain damage and other long-term problems.

What treatment do children with PKU need?

The main treatment for PKU is a lifelong reduced-protein diet. Problems are less likely to occur if your baby starts a PKU diet by age 3 weeks. Your baby?s doctor can help you choose a formula that doesn't contain phenylalanine. You may be able to feed your baby some breast milk, but talk to your baby?s doctor first. As your child gets older, a registered dietitian can help you choose the right foods and recipes.

The medicine sapropterin (Kuvan) may help lower phenylalanine levels in some children who have PKU. More studies are needed to find out the health effects from long-term use. With or without the medicine, your child still needs to follow a PKU diet.