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.
1. What enzyme is most commonly defective in people with phenylketonuria?
a. Phenylalanine Hydroxylase (PAH)
2. What reaction does this enzyme catalyze? (What is the substrate and what product is produced?)
a.Changes to make Tyrosine by grabing an oxygen atom and transfers it to the bottom of phenylalanine. Afterwards a hydrogen atom then attaches to the oxygen.
3. Describe the symptoms of phenylketonuria.
a.Phenykletouria has many symptoms them being metally retardered, a small head then normal for a newborn, epilepsy, musty oder, and defincicy in tyrosine.
4. What causes the symptoms of PKU, the lack of a substance or the buildup of one?
a. The build up of a protiens causes the symptoms of PKU.
5. How common is phenylketonuria? How is it treated?
a.PKU appears in 1 of every 10,000 births in caucaisains and east asian births. Some ethic groups have a higher rate nad some have lower rates. PKU is rare in Aficans. PKU is treated by have the person on a low-protien diet and they should stay on this diet as long as possible. Even after 12 relaxation of the diet can change a person’s behavior. Experts recommend that they keep this diet for life.
Websites:
Your Genes, Your Health: Phenylketonuria
NSPKU Home Page
Texas Department of Health Genetic Disorders
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