Question: Does PKU Run In Families?

What does PKU do to 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..

How does phenylketonuria cause mental retardation?

Mutations in the PAH gene can cause phenylketonuria (PKU), a disorder that can change cells in the brain. The faulty protein allows dangerously high levels of phenylalanine to accumulate in the brain, poisoning the cells. If a person with PKU consumes too much phenylalanine, the build-up can cause mental retardation.

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.)

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.

Can you die from PKU?

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. However, if the condition is detected early and treatment is begun, individuals with PKU can lead healthy lives.

What part of the body does PKU affect?

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.

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.

How does PKU affect your life?

Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life. Neurological problems such as seizures and tremors. Behavioral, emotional and social problems in older children and adults.

Is PKU a disability?

Because the severity of PKU cases vary from individual to individual, however, a diagnosis of PKU in and of itself is not enough to qualify a person for Social disability benefits.

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.

Can you grow out of PKU?

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