How Is PKU Detected?

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.

Who is most likely to get PKU?

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.

Is PKU a disability?

In order to qualify for Social Security Disability benefits due to a diagnosis of phenylketonuria, you must be able to prove that your condition prevents you from performing any type of substantial gainful work activity.

What does PKU smell like?

If PKU is untreated, or if foods containing phenylalanine are eaten, the breath, skin, ear wax, and urine may have a “mousy” or “musty” odor. This odor is due to a buildup of phenylalanine substances in the body.

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.

Can you develop phenylketonuria later in life?

Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood.

Can PKU go away?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.

What is the life expectancy of a person with phenylketonuria?

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

What foods do people with phenylketonuria have to avoid?

People with PKU must avoid foods that are high in protein like meat, fish, poultry, dairy, soy, legumes (dried beans) or nuts. Some fruits and vegetables are higher in protein than others. PHE is in almost everything except sugar, salt, oil, and water.

Is PKU a life threatening disease?

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 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.)

What does a positive PKU test indicate?

The test screens for blood levels of phenylalanine. Normal levels of phenylalanine in the blood are less than 2 milligrams per deciliter (mg/dL). More than 4 mg/dL of phenylalanine in the blood is considered high and may mean your child has PKU.

What happens if someone with PKU eat protein?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

Can a woman with PKU have a normal child?

Pregnancy and Phenylketonuria (PKU) Girls or women with PKU can have healthy children as long as they are aware of and maintain strict adherence to their low phenylalanine diet throughout their pregnancy.

What part of the body does phenylketonuria affect?

A. Phenylketonuria (PKU) is a treatable disorder that affects the way the body processes protein. Children with PKU cannot use a part of the protein called phenylalanine. If left untreated, phenylalanine builds up in the bloodstream and causes brain damage.