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.

What is the life expectancy of a child with PKU?

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.

How did my child get PKU?

PKU is caused by a defect in a gene known as the PAH gene. This defect changes the way that phenylalanine is broken down by the body during digestion. 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.

Can PKU be cured?

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 is PKU detected?

Newborn blood testing identifies almost all cases of phenylketonuria. All 50 states in the United States require newborns to be screened for PKU. Many other countries also routinely screen infants for PKU. If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth.

How do you treat PKU in babies?

Treatment for PKU involves following a strict diet that is low in phenylalanine. Babies with PKU need to be on a special formula as soon as possible. Children and adults with PKU should eat a low-protein diet. They should avoid high-protein foods, like milk, dairy, meats, eggs, nuts, soy, and beans.

How long can someone with PKU live?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet.

Can you live a normal life with PKU?

PKU leads to a build-up of the amino acid phenylalanine, which is toxic to the nervous system. Without treatment, PKU can cause intellectual disabilities. PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states.

What happens if PKU is left untreated?

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.

What is the PKU test for newborns?

A phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. Phenylalanine is an amino acid that is needed for normal growth and development.