Phenylketonuria Genetic Project

By: Emma Larson


Phenylketonuria is a kind of genetic disorder when our bodies can not breakdown a certain protein (phenylalanine). This protein is very common in many foods. And if this protein reaches our brain, or close to our brain, it can cause a very bad disability.

How is it inherited?

Phenylketonuria is not a very common disorder, it only effects 1 out of 10,000-15,000 babies in the US. PKU is spread throughout all different races. But the least common ethnic group to inheirit this disorder is African descent and in Ashenazic Jews- which is 1 in every 50,000 babies.

Phenylketonuria is a mutation caused if your body is missing an enzyme called phenylalanine hydroxylase, this is an enzyme that is suposed to change essential amino acids (phenylalnine) to a different amino acid (tyrosine). But when this enzyme, phenylalanine hydroxylase, is not present, it causes the phenylalanine to bulid up in your blood. Then it will pass out of your body in urine. This is when PKU occurs.


If a PKU patient has not been diagnosied then some symptoms could include-

  • becoming mentally retarted
  • not growing in your vocabulary
  • patterns of extreme behavior
  • seizures
  • very bad body odor
  • becoming pale

If a baby is not diagnosed right after birth the symptoms should show up by the childs first birthday-also syptoms are not visble for the babies first few months after brith

Tests and Treatments

PKU dsisorder requires a very special diet, PKU patients can not eat high protein foods, including-

  • Milk and cheese
  • Eggs
  • Nuts
  • Soybeans
  • Beans
  • Chicken, beef, or pork
  • Fish
  • Peas
  • Beer

Also people who are diagnosied with PKU have to take a special formula, they are all different for different ages.

People with PKU have to stay away from certain foods, drinks, medications, and vitamins. If you have PKU, you probably will be working with a healthcare professional to develope a diet that suits your individual needs. Having Phenylketonuria is a very difficult lifestyle that you have to follow. So joining support group, or even just getting support from your family and friends is an easy way to ensure being healthy

Current Research and Studies

Current research going on will let people know if PKU patients can get a liver or liver cell transplant to decrease the need of medical and dietary management, or even eliminate it completely!


Reference Source
Archive & annotate pageFerrara, Miranda Herbert. "Phenylketonuria (PKU)." Human Diseases and
Conditions. 2010. Gale Virtual Reference Library. Web. 5 Apr. 2016.

Web Site
Web Page
View live Web page
Archive & annotate page"Phenylketonuria." MedlinePlus. N|H, 2 Oct. 2014. Web. 5 Apr. 2016.

Reference Source
Archive & annotate pageLetcher, Marshall G. "Phenylketonuria." The Gale Encyclopedia of Genetic
Disorders. Ed. Laurie J. Fundukian. 2010. Gale Virtual Reference
Library. Web. 5 Apr. 2016.

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