Phenylketonuria Genetic Project
By: Emma Larson
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
- 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
- Chicken, beef, or pork
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
Archive & annotate pageFerrara, Miranda Herbert. "Phenylketonuria (PKU)." Human Diseases and
Conditions. 2010. Gale Virtual Reference Library. Web. 5 Apr. 2016.
View live Web page
Archive & annotate page"Phenylketonuria." MedlinePlus. N|H, 2 Oct. 2014. Web. 5 Apr. 2016.
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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