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Newborn screening reveals that newborn Jessica has inherited phenylketonuria (PKU). Her parents are distraught at the diagnosis, but a nutritionist explains that Jessica can be treated, right away. The treatment for PKU is

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There is no cure for Phenylketonuria (PKU). The most important treatment is a diet that limits foods with phenylalanine. This means the diet must be low in protein.

What is Phenylketonuria?

  • Phenylketonuria (PKU) is a rare genetic condition where babies are born unable to break down an amino acid called phenylalanine. This causes phenylalanine to build up.
  • When phenylalanine levels get too high, it can damage the brain. This can lead to intellectual and developmental disabilities.

What is the treatment for PKU?

  • Phenylalanine is found in foods that contain protein. PKU is manageable, mostly through your diet. The key to living with PKU successfully is finding it early.
  • New-borns diagnosed with the disease must use special infant formula. This can be mixed with small amounts of breast milk or regular formula. It’s a delicate balance. The baby does need some phenylalanine for normal development.
  • People with PKU must also avoid food products that contain aspartame, as it's converted into phenylalanine in the body.
  • A child with phenylketonuria will need regular blood tests to measure levels of phenylalanine in their blood and assess how well they're responding to treatment.

To learn more about Phenylketonuria:

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