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 a child born with PKU survive?

If PKU is confirmed, treatment will be given straight away to reduce the risk of serious complications. 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 does PKU affect a child?

Children with PKU can’t process an amino acid called phenylalanine. Phenylalanine is in many common foods. But it can build up in the bloodstream of children with PKU. This can cause growth, mood, behavior, and thinking problems, as well as other problems ranging from mild to severe.

What is the life expectancy of a child with PKU?

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.

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What are the symptoms of PKU in babies?

Symptoms

  • A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
  • Neurological problems that may include seizures.
  • Skin rashes (eczema)
  • Fair skin and blue eyes, because phenylalanine can’t transform into melanin — the pigment responsible for hair and skin tone.

Can a baby with PKU breastfeed?

In the early 1980s, with the determination of low concentration of Phe in breast milk, breast milk supplemented with Phe-free formula has become an acceptable dietary treatment for infants with PKU. Today, breastfeeding is encouraged and well established in PKU patients.

Is PKU curable?

There is no cure for PKU. The most important treatment is a diet that limits foods with phenylalanine. This means the diet must be low in protein. Newborns diagnosed with the disease must use special infant formula.

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.

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.

Is PKU a disability?

The Social Security Administration does recognize phenylketonuria in its Blue Book of Medical Listings under Section 10.00 in paragraph C. 2. However, a diagnosis of the condition itself is not enough to qualify an individual for Social Security Disability benefits, regardless of the SSA’s listing inclusion.

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Are all babies tested for PKU?

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 does PKU cause brain damage?

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 PKU is diagnosed?

PKU is diagnosed with a blood test. In the United States and most other countries, a blood test is taken through a heel stick on newborn babies within 48 hours of birth. Further tests will be required to confirm the type of PKU and plan the best way of treating it.

Can you grow out of PKU?

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

Is there a cure for PKU coming soon?

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.

How long do PKU results take?

The newborn screening test will be repeated and additional tests will be done to help the doctors figure out if your baby has PKU. Usually the results of these tests take a few days to come back.

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