Tuesday, December 15, 2015

PKU (Phenylketonuria)

1. What enzyme is most commonly defective in people with phenylketonuria?

The enzyme that is the most commonly defective in people with phenylketonuria is enzyme Phenylalanine Hydroxylase.


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

It causes mental retardation because it changes cells inside the brain.


3. Describe the symptoms of phenylketonuria.

lighter hair and skin a smaller than normal head and the skin has a musty odor.

4. What causes the symptoms of PKU, the lack of a substance or the buildup of one? Explain. 

The causes of the symptoms is that it causes the enzyme to not work properly by mutating the gene.

5. How common is phenylketonuria? How is it treated? 

1 in 10,000 births in caucasians and east asians, 1 in 2,600 in turks, 1 in 4,500 in irish, 1 in 143,000 in japanese, and it is exceedingly rare in africans.

The way PKU is treated is by having a low protein diet as soon as the disorder is diagnosed and stay on that diet as long as possible.

Cited Sources: http://www.ygyh.org
http://www.nspku.org

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