Phenylketonuria

Phenylketonuria

Phenylketonuria seems like a long scientific medical term, but do not let the word be intimidating. Phenylketonuria (PKU) is a genetic disorder that infants can be born with. According to MedlinePlus, Phenylketonuria (PKU) is when the protein known as phenylalanine (Phe) cannot be broken down by the body ("Phenylketonuria (pku)," 2011). Several foods are made up of Phe making it hard to just eat anything. The amino acid phenylketonuria (Phe) is suppose to be broken down because of the interruption in the gene instruction that is needed to make the enzyme that is responsible for carrying this out in accordance to Mayo Clinic Staff (Mayo Clinic Staff, 2010 ). This may seem like it is hard to grasp and make an understanding out of it. Let’s look further more into Phenylketonuria (PKU) to comprehend it.

There is a molecular and cellular background explanation to Phenylketonuria (PKU). The human body creates proteins that consist of amino acids, one of them being phenylalanine (Phe). The sequence order varies for every protein created, but too much phenylalanine can cause PKU. According to Cooper and Hausman, the “deficiency” of phenylalanine hydroxylase can convert into Tyrosine or Phenylpyruvate. Tyrosine is the amino acid that phenylalanine (Phe) is supposed to result in. By converting into Phenylpyruvate, serious medical conditions can occur. The buildup of phenylpyruvate in the blood supply and is secreted in urine (Copper & Hausman, 2008). This seems all so technical, looking into what causes this genetic disorder to occur.

References

Campbell, N., & Reece, J. (2008). Biology. San Francisco,

California: Pearson.

Mayo Clinic Staff. (2010, November 10). Phenylketonuria (pku).

Retrieved from

http://www.mayoclinic.com/health/phenylketonuria/DS00514/DSECTION=treatments-and-drugs

Phenylketonuria. (2009). Retrieved from

http://www.medhelp.org/lib/pku.htm

Phenylketonuria (pku). (2011). Retrieved...