Skip to main content
Go to homepage

Print Page

Phenylketonuria (PKU)

What Is Phenylketonuria (PKU)?

Phenylketonuria (fen-ul-kee-tuh-NUR-ee-uh), or PKU, is a metabolic disorder that some babies are born with. It's caused by a defect in the enzyme that breaks down the amino acid phenylalanine.

Newborn babies in the United States have their blood tested for PKU as part of newborn screening. This lets doctors start treatment, usually a special diet, right away to help prevent problems.

What Are the Signs & Symptoms of PKU?

The body uses amino acids to build proteins. Phenylalanine (fen-ul-AL-uh-neen) is needed for normal growth in infants and children and for normal protein production. But if too much builds up in the body, the brain is affected. Phenylketonuria that's not treated can lead to developmental delays and permanent intellectual disability.

Phenylalanine also affects melanin, the pigment responsible for hair color and skin color. So kids with PKU often have fair skin, light hair, and blue eyes.

A child with PKU may also have:

  • seizures
  • growth problems
  • behavioral problems
  • skin rashes
  • a musty odor to the breath, skin, or urine (pee) from too much phenylalanine in the body

What Causes PKU?

Phenylalanine is one of the eight amino acids that we get only from food sources. Usually, the body breaks down phenylalanine with an enzyme called phenylalanine hydroxylase (PAH) to make proteins.

People with PKU are born with an inherited defect in the gene that controls the production of PAH. So their bodies can't break down phenylalanine properly.

How Is PKU Diagnosed?

All newborn babies in the United States have their blood tested for signs of PKU as part of newborn screening.

How Is Phenylketonuria Treated?

Treatment for PKU involves following a strict diet that is low in phenylalanine. Babies with PKU need to be on a special formula as soon as possible.

Children and adults with PKU should eat a low-protein diet. They should avoid high-protein foods, like milk, dairy, meats, eggs, nuts, soy, and beans. A person with PKU also should avoid the artificial sweetener aspartame, which contains phenylalanine. Special formulas may be needed at any age for the person to get the right amount of calories and essential nutrients.

The special diet should start as soon as PKU is diagnosed and continue for the rest of the person's life. New medicines are being developed to lower PKU in the blood, but medical nutrition therapy is the main treatment for PKU.

What Else Should I Know?

PKU is treatable when found early. Doctors will closely watch kids who have it. People with PKU must strictly follow the right diet for the rest of their lives. This can prevent the problems caused by too much phenylalanine.

If your child has phenylketonuria, work with the health care team to help keep phenylalanine levels in an acceptable range. Your doctor will check the level of phenylalanine in your child's blood regularly.

Because PKU is a genetic condition, you may want to speak to a genetic counselor about testing other family members and how PKU runs in families. You also can find more information and support online at:

Reviewed by: Michael F. Cellucci, MD
Date Reviewed: 25-07-2022

Lea este articulo en Español

What next?

Summit Mall Play Area
Answer Key:
Click to expand
There are 10 nurses in the picture.

And we have many more pediatric primary care providers in Northeast Ohio. You can meet some of them here.
Summit Mall Play Area
Answer Key:
Click to expand
The five differences are:
– Phone color
– Coat pocket
– Stethoscope earpiece color
– Stethoscope bell dot
– Clipboard paper color

Need help finding a doctor, choosing a location or getting a general question about Akron Children's answered? Call us or fill out the form and we'll help in any way we can.
Summit Mall Play Area
Answer Key:
Click to expand
The two matching doctors are 9 and 14.

With virtual visits, you can see our pediatric experts from the comfort of home or wherever you are.
Summit Mall Play Area
Answer Key:
Click to expand
The correct path:
The Correct Path
We offer many ways to get pediatric care all over Northeast Ohio. Use this page to find the right kind of care and the most convenient location for you.