Wednesday, December 21, 2011

PKU

1. What enzyme is most commonly defective in people with phenylketonuria?
PKU occurs when a person inherits a genetic mutation that disrupts the function of a crucial metabolic enzyme(PAH).
2. What reaction does this enzyme catalyze?

3. Describe the symptoms of phenylketonuria.
 - Delayed mental and social skills
 - Hyperactivity
 - Mental Retardation
 - Seizures
 - Skin rashes
 - Tremors
4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
The build up of a substances can cause PKU. Certain substances are harmful to the central nervous system, and can even cause brain damage!
5. How common is phenylketonuria?
It is not usually common, normally 1 in 10,000 have it.

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