PKU

Metabolic disorders are genetic diseases that affect the body's ability to perform its normal chemical reactions. Many metabolic disorders result from enzyme defects. Recall that a metabolic pathway is a stepwise sequence of enzyme-mediated reactions. If one enzyme in a metabolic pathway is defective, that enzyme's substrate may accumulate and the pathway may not be completed. This may result in a buildup of harmful substances or a shortage of required molecules.

Some Answered Questions on PKU---v

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

A: The PAH (phenylalanine hydroxylase) enzyme. It’s produced in the liver.

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

A: A substrate is a molecule upon which an enzyme acts. the substrate bonds with the enzyme active site, an enzyme-substrate complex is formed.

3. Describe the symptoms of phenylketonuria.

A: Bahavioral/Social Problems, Hyperactivity, Mental Retardation, Small Head SIze, Etc..

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

A: The build up of a substance, can cause the a young child who may seem normal for the first few months of life but if it goes untreated it can cause many problems

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

A: The occurrence of PKU varies among ethnic groups and geographic regions worldwide. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed.

It was very informational and i learned a lot about what phenylketonuria is and how it affects the body, and how people would be able to treat it.