Question: Is PKU A Birth Defect?

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 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 you drink alcohol with PKU?

Drinking and Having PKU Alcohol changes your brain processing and interferes with your judgment. High blood phe levels + alcohol dramatically increases these effects. “It doesn’t take much”. Even one drink together with high blood phe levels can significantly impair your thinking.

Can a baby 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 …

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 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.

What happens if a baby has PKU?

A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for serious problems. The developing baby in the uterus can be exposed to very high levels of phenylalanine. This can cause low birth weight, slow growth, small head, behavior problems, and heart disorders.

Can you grow out of PKU?

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

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 can Babies with PKU eat?

When your baby is ready to eat solid foods, she can eat vegetables, fruits, some grains (like low-protein cereals, breads and pasta) and other low-phenylalanine foods. If your baby has PKU, she should not eat: Milk, cheese, ice cream and other dairy products.

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.

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.

What is the genetic defect responsible for PKU?

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid.

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 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 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.

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 there a cure coming soon for PKU?

Currently, there is no cure for PKU, however, the prevailing treatment is predominantly through dietary restriction of Phe to the minimum required for normal growth, supplemented with specifically designed medical foods.

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.

How does PKU 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.