PKU Toolkit - A Guide to PKU Management for Teens and Young Adults - Produced by Children's Hospital Boston, Applied Nutrition, and the New England Consortium of Metabolic Programs

What is PKU?

You may know by now all about PKU, its causes, implications and treatments. However, we have gathered some basic information for you to refresh your knowledge or answer any questions you may still have.

Also, what you may not know is that research has shown that people with PKU should stay on the special diet and formula throughout their lives.

But, let’s start at the beginning: 
Phenylketonuria or PKU is a rare inherited biochemical disorder. Approximately one in every 15,000 infants in the United States is born with PKU.

Being born with PKU means that to stay healthy you need to follow a treatment. This treatment limits phenylalanine and consists of a diet and special formula.

Specifically, PKU prevents your body from metabolizing phenylalanine, which is one of the amino acids that are joined together to form proteins. A person with PKU does not have the enzyme needed to change phenylalanine into another amino acid, tyrosine. As a result, when the infant or adult is untreated or poorly treated, phenylalanine rises to high levels in the blood and can damage the brain, causing mental retardation, seizures, learning disabilities and emotional problems. Controlling PKU through diet keeps your phenylalanine levels low and allows you to be healthier.

Maternal PKU is when a woman with PKU is pregnant and must follow strict control of her diet to protect her baby. Diet helps to prevent brain damage and heart defects to the unborn child which are caused by high phenylalanine levels.

What Causes PKU?

PKU is an inherited condition. That means that it is passed through families and people who have PKU are born with it. Both parents need to have a PKU gene for you to inherit PKU. If you inherit only one gene of PKU that means you are a carrier, you have no symptoms and you may not even know that you are a carrier. However, there is a chance that you may pass the PKU gene to your children.

An individual cannot cause or prevent having PKU. We have no control over genes that are in our body, or are inherited from our parents. However, you have control over managing PKU. You can control your phenylalanine levels through diet and formula and be healthy.

The University of Minnesota's PKU Program and Foundation has a good basic description of the biology of PKU. Click here to visit the PKU Basic's page.

How Can PKU be Treated?

Protein is composed of amino acids joined together like beads on a string. One of these amino acids is phenylalanine. To avoid a build-up (high levels) of phenylalanine, people with PKU must avoid most forms of protein in their diet. So, to control your PKU you need to follow a diet that is low in protein. However, a diet without protein would not allow you to grow and develop normally, because amino acids are necessary for life. Therefore, to control your PKU and receive proper nutrition, you must also take a special formula that contains all the necessary amino acids except phenylalanine.

Following the diet and taking the formula on an every day basis may be hard and frustrating. But when you think how PKU can affect your health, you realize it is worth controlling it.

Sticking to a low protein diet and consuming formula will help you manage your PKU and feel healthier.

Low protein diet plus special formula equals PKU treatment which leads to better health
PKU Toolkit
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