How Is The Family Of A Person With PKU Affected?

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..

How do you explain PKU to parents?

PKU is short for phenylketonuria (pronounced fen’-il-kee’-to-nu’-ria). PKU is a genetic disorder in which the child is born without the ability to break down a certain amino acid in the body. Amino acids are the building blocks of protein.

How is phenylketonuria PKU inherited?

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.

What type of disorder is PKU?

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.

How does phenylalanine affect the brain?

The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.

Why do people with phenylketonuria have light skin?

Children with PKU have lower levels of melanin, the substance that gives color to hair and skin. That’s because when phenylalanine is broken down, one of its products is used to make melanin. As a result, children with PKU often will have pale skin, blond hair and blue eyes.

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.

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.

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 can you eat if you have PKU?

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

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.

How phenylketonuria is transmitted in child through their parents?

PKU is passed on to children when each parent has 1 mutated gene. This means that neither parent has any symptoms of PKU, but both are carriers of the faulty gene. PKU is an autosomal recessive disease. This means that a child needs to inherit 1 faulty gene from each parent to show signs of the disorder.

Why 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.

Can babies with PKU breastfeed?

Years ago PKU was an absolute contraindication for breastfeeding, but with more research on the disease and the breast milk components, it is now strongly suggested to breastfeed a PKU baby along with his or her special phenylalanine free formula under close supervision from a dietitian and experienced breastfeeding …

Does PKU run in families?

PKU is passed down through families. For a baby to have the disease, he or she must get (inherit) the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families.

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.)

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.

How do you explain PKU to a child?

A child may not understand why he or she has PKU when others do not, and may think that he or she did something to ‘deserve’ it. Explain to your child that everyone is born with different qualities – such as hair color and eye color – and PKU is something that people are born with, not something that anyone causes.