PKU

by mhcrawford

1. What enzyme is most commonly defective in people with phenylketonuria?
PAH is the enzyme that is most commonly defective. PAH is phenylalanine hydroxylase. It processes phenylalanine to tyrosine. PAH change was first detected in a single-base change.

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

It catalyzes the phenylalanine catabolism, in which phenylalanine is changed into tyrosine.l

3. Describe the symptoms of phenylketonuria.
1. Skin lesions.
2. Lower IQ.
3. Emotional issues.
4. Mental/Growth retardation.
5. Physical malformations.

4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
Both. Either a buildup of substances that may cause harm, or a lack of molecules. The buildup is phenylalanine, a natural substance.

5. How common is phenylketonuria? How is it treated?
It occurs in 1 in 10,ooo births.

It is treated by a low protein diet, seeing as how phenylalanine is in our protein.

Advertisements