What is the main cause of phenylketonuria?

PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.

What phenylketonuria means?

Listen to pronunciation. (FEH-nil-KEE-tone-yoor-ee-uh) An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development.

How does phenylketonuria affect you physically?

People with PKU cannot break down the amino acid phenylalanine, which then builds up in their blood and brain. This can lead to brain damage.

Can phenylketonuria be cured?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems.

How is phenylketonuria managed?

PKU is treated by cutting back on protein to limit the intake of phenylalanine. If you or your child is diagnosed with moderate to severe PKU, you will need to adjust the diet to include special formulas and meals. These changes include a diet that is low in phenylalanine, while ensuring adequate protein intake.

What mutation causes phenylketonuria?

Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase . This enzyme converts the amino acid phenylalanine to other important compounds in the body.

Can you develop phenylketonuria later in life?

Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.

Is PKU life threatening?

Is PKU a life threatening disease? No. PKU is a slowly progressive disease that does not cause acute symptoms. During the first months of life it is completely asymptomatic and can only be detected by population screening determinations.

Is phenylalanine cancerous?

Answer From Katherine Zeratsky, R.D., L.D. Phenylalanine isn’t a health concern for most people. However, for people who have the genetic disorder phenylketonuria (PKU) or certain other health conditions phenylalanine can be a serious health concern.

Who’s at risk for phenylketonuria?

In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.