Thursday, December 1, 2011

PKU



Questions

1. What enzyme is most commonly defective in people with phenylketonuria?
Answer:
PKU occurs from an inherited genetic mutation that causes disruption of the PAH enzyme.


2. What reaction does this enzyme catalyze? (What is the substrate and what product is produced?)
Answer:





3. Describe the symptoms of phenylketonuria.
Answer:

Excess "phe" prevents growth in the brain and developing normally. Also skin rashes, musty body odor, metal retardation, and epilepsey.





4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
Answer:
PKU affects the ability to use protein properly. Enzymes break down proteins into amino acids tas building blocks for body growth and repair. Only in PKU the enzymes dont function properly. The one that is needed to convert "phe" into another amino acid. As a result to this, "phe" assembles in the blood and the body.



5. How common is phenylketonuria? How is it treated?
Answer:
PKU occurs in 1 in 10,000 to 1 in 15,000 newborns. Although this is so, the incidence varies according to ethnic groups and geographic location.





http://www.ygyh.org/pku/whatisit.htm

No comments:

Post a Comment