Can You Have PKU And Not Know It?

Can you develop PKU 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..

Do PKU carriers have symptoms?

A person with one genetic defect for the disorder, is called a ‘carrier’ for PKU. Carriers do not have symptoms of the disorder.

How long is the average lifespan of a person with PKU?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states.

Is PKU more common in males or females?

Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.)

How is PKU detected?

PKU can be easily detected with a simple blood test. All states in the United States require a PKU screening test for all newborns as part of the newborn screening panel. The test is generally done by taking a few drops of blood from the baby before the baby leaves the hospital.

What happens if a PKU goes undetected?

Phenylketonuria (PKU) is a condition in which the body cannot break down one of the amino acids found in proteins. PKU is considered an amino acid condition because people with PKU cannot break down the amino acid called phenylalanine. If left untreated, PKU can cause brain damage or even death.

How do they test for PKU in adults?

If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine.

Can you have mild PKU?

Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU.

What race is PKU most common in?

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.