PKU (phenylketonuria)

Brianne Reyes

What is PKU?

PKU is a condition when a enzyme cannot break down the amino acid phenylalanine, which is a component of all types of protein. PKU causes damage in the central nervous system. Damage begins in the first few days of life and can result in mild to severe mental retardation, depending on the severity of the individual condition but with early detection and treatment, these consequences can be avoided.

How do you get it?

It is a autosomal recessive disorder. To have a child with PKU, both parents have to carry the gene. 1 in every 50 people are carriers. Having both parents being a carrier for PKU is very rare. PKU only affects 1 in every 10,000 babies born in the U.S.
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Infants with the condition may have lighter skin, hair, and eyes than their brothers or sisters without the disease.

Other symptoms:

  • -Delayed mental and social skills
  • -Head size significantly below normal
  • -Hyperactivity
  • -Intellectual disability
  • -Seizures
  • -Skin rashes
  • -Tremors
  • -Unusual positioning of hands
  • Treatment

    Since PKU is so rare, why do we screen every newborn for this disease? Because if a newborn is diagnosed with PKU, treatment is begun in the first week of life, the baby has a very good chance of escaping the disastrous effects of this disease. They are put on a very strict diet and restrictions and this diet is forever. Babies will be put on Phe-free formula.

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    Life expectancy

    People with PKU have the same life span as other people, if avoiding phenylalanine especially during childhood when the brain is still developing.


    -A Norwegian doctor Asbjorn Folling discovered PKU in 1934.

    -Very rare disease

    -Strict diet