PKU Phenylketonuria

Biology Genetic Disorder Project

Why I choose this Genetic Disorder?

The reason i picked the disorder is because my best friend Serena, has a little brother who has PKU. Many times i would help him with formula and what he could and couldn't eat.
Brief Introduction for Phenylketonuria (PKU)

What is PKU? What does it effect?

PKU stands for Phenylketinuria. PKU is caused by the lack of enzymes to break down and amino acid called Phenylalanine; which is a key acid in the making of proteins. Without the proper enzymes to break down this acid serious damage can be caused to the brain.

The Cause and Where?

CAUSE: PKU is caused by a genetic mutation on the PAH (phenylalanine hydroxlase) gene. This is a recessive mutation so its very rare.

Where:The mutation is passed down from the parents are recessive genes. One from mom and one from dad. This mutation can also cause other disorders where the in not enough enzymes produced. PKU is found on chromosome 12.

Lauren's PKU Story

Population Effects

1 in every 15,000 to 25,000 newborns are diagnosed with PKU in the United States every year. Most people who are diagnosed with PKU are descendants of Northern European and Native Americans.
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The Symptoms

If PKU is not treated appropriately it can result in the following:

  • Seizures
  • Mental retardation or intellectual disabilities
  • Tremors
  • Hyperactivity
  • Stunted Growth
  • Eczema
  • Distinct odor in breath and skin, sometimes urine
  • Lightened skin, hair or eye color


As a newborn, symptoms are not present for PKU. A day or two after the child is born a screening will be done on ones blood to see if there are any genetically defects. Not just for PKU. The screening is taken for all children as the bottom of the heal is pricked to draw blood for the screening. The screening helps detect certain levels for PKU and other diseases.


When diagnosed with PKU one can not intake proteins. Therefore, you don't receive the protein that you need to function. PKU is treated with a formula that infuses proteins into the body that is necessary for one to function. The special formula has taken the name of Lofenalac. FDA officials recently approved a special resistant to the intake called sapropterin.

What I Discovered........

I learned that if a woman with PKU doesn't eat right during a pregnancy that it can have serious effects on the baby. Even if it doesn't develop the genetic disorder. Side effects can vary between small head size, hearts defects, and low birth weight.