Phenylketonuria: What Is It?

Phenylketonuria (PKU) is a genetic disorder that causes the body to build up a harmful substance called phenylalanine (Phe). Phenylalanine is an amino acid that is found in many foods, including meat, fish, poultry, eggs, dairy products, nuts, seeds, and beans.

People with PKU are not able to break down phenylalanine properly. This can cause a build-up of phenylalanine in the blood, which can lead to a number of serious health problems, including:

* Intellectual disability

* Seizures

* Behavioral problems

* Skin rashes

* Eczema

* Hyperactivity

* Short stature

* Mental health problems

PKU is treated with a special diet that is low in phenylalanine. This diet must be started as early as possible, ideally within the first few days of life. The goal of the diet is to keep phenylalanine levels in the blood within a safe range.

PKU can be managed successfully with early diagnosis and treatment. Most people with PKU are able to live normal, healthy lives.

Here are some additional things you should know about PKU:

* PKU is inherited in an autosomal recessive manner. This means that both parents must carry the PKU gene in order for their child to have the disorder.

* PKU is one of the most common inherited metabolic disorders. It affects about 1 in 10,000 newborns in the United States.

* PKU can be diagnosed with a simple blood test.

* There is no cure for PKU, but it can be managed successfully with a special diet.

* Most people with PKU are able to live normal, healthy lives.

If you are pregnant or planning to become pregnant, it is important to talk to your doctor about PKU. Early diagnosis and treatment can help to prevent serious health problems for your child.