Is PKU Curable?

What percent of the population has PKU?

The occurrence of PKU varies among ethnic groups and geographic regions worldwide.

In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns..

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 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.

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.

Are the effects of PKU reversible?

The damage done to the brain if PKU is untreated during the first months of life is not reversible.

What triggers phenylketonuria?

Causes of phenylketonuria PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.

What can you eat on a PKU diet?

PKU DietMeat, eggs, and fish.Bread, noodles, and wheat products.Nuts, peas, and beans (and products made from these foods).Milk and cheese.Chocolate.

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.

At what age does PKU become evident?

Babies with PKU usually seem healthy at birth. Signs of PKU begin to appear around six months of age.

How does PKU affect the brain?

PKU affects the brain. When neurotransmitters are not made in the right amounts, the brain cannot function properly. High blood Phe levels can cause disruptions in neurotransmitters like serotonin and dopamine, which are important for mood, learning, memory, and motivation.

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.

Does PKU preclude exercise?

The short answer is YES! It is safe, and in fact, recommended. Even though research in our field cannot conclude that exercise will reduce your blood-phe levels, there is much known about the positive effects of exercise for all of us.

Does 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 someone 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.)