Everything You Need to Know About Phenylketonuria (PKU)

Phenylketonuria (PKU) is an inherited disorder that increases the levels of phenylalanine in the blood. According to the U.S. National Library of Medicine, “Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.”

Every baby who is born in a hospital is given a quick blood test when they are one or two days old to determine if they have PKU. All 50 states require this newborn screening.

The PKU test is done a day or two after their birth

How Does the PKU Test Work? 

The PKU test is done a day or two after the baby’s birth once they have ingested protein. This helps to ensure an accurate result.

A nurse will prick your baby’s heel to collect a drop of blood which is then tested in a lab for a few different metabolic disorders, including PKU.

What Are the Signs and Symptoms of PKU?

The symptoms can range from mild to severe, with the most severe being categorized as PKU. Infants with PKU won’t show any outward symptoms until they are a few months old.

Without treatment, the symptoms can include permanent intellectual disabilities, delayed development, behavior problems, and psychiatric disorders.

What Happens After a Positive PKU Test?

PKU is actually very rare and only 10,000 – 15,000 babies a year are diagnosed in the United States. If your baby is one of those babies, the doctor will most likely order additional testing. These will include both blood and urine.

Once it’s confirmed that your baby has PKU, it’s time to come up with a treatment plan.

How does PKU Treatment Work?

Once it’s confirmed that your baby has PKU, it’s time to come up with a treatment plan. For babies, this includes using a specialty formula that has enough essential proteins but does not have phenylalanine.

As the child ages, they will have to eat a diet that avoids high-protein foods such as:

• Milk
• Eggs
• Cheese
• Nuts
• Soybeans
• Beans
• Chicken
• Beef
• Pork
• Fish

Due to the restrictions of the diet, people who have PKU may use formula well past the age when formula is normally transitioned to milk and food.

What Formulas Are Safe for PKU?

At Insurance Covered Baby Formula, we offer several types of metabolic formulas which you can view here. We know that these formulas are medically necessary and very expensive, which is why we help families work with their insurance to get them covered. Fill out the Am I Covered form to find out if your insurance will cover metabolic formulas.

We know that parenting takes a village and we want you to be successful!

See if your insurance will cover one of our formulas by clicking here and contact us if you have any questions.