What Causes Neuronal Damage In Patients With PKU?

Who is affected by 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..

What gene is affected in PKU?

Gene alterations (mutations) in the PAH gene cause PKU. Mutations in the PAH gene cause low levels of an enzyme called phenylalanine hydroxylase.

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.

How much protein can a person with PKU have?

The United Kingdom Medical Research Council Working Party on PKU recommend a total protein intake of at least 3 g/kg body weight per day for children under 2 years of age and 2 g/kg body weight per day for children over 2 years of age [5].

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.

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 organ is most affected when a person with PKU consumes the amino acid phenylalanine in their diet?

Too much phenylalanine in the body causes problems with the brain and other organs. Damage from a buildup of phenylalanine can begin within the first month of life and, if undetected and/or untreated, PKU results in severe mental retardation, hyperactivity, and seizures.

Can you outgrow PKU?

A person with PKU does not outgrow it and must stay on the diet for life.

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.

What is cystic fibrosis life expectancy?

Outlook (Prognosis) Many young adults with CF finish college or find jobs. Lung disease eventually worsens to the point where the person is disabled. Today, the average life span for people with CF who live to adulthood is about 44 years. Death is most often caused by lung complications.

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.

Can someone with PKU live a normal life?

Diagnosing PKU Treatment includes a special diet and regular blood tests. With early diagnosis and the correct treatment, most children with PKU are able to live healthy lives. About 1 in 10,000 babies born in the UK has PKU.

What foods should you avoid if you have PKU?

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 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 does PKU affect the body?

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.