Name______Period______Date______

Biology

Enzyme Investigation Webquest

Enzymes

As in all organisms, enzymes are critical for chemical reactions in humans. One reaction produces melanin, which gives skin a dark color. Melanin helps protect skin cells from ultraviolet radiation—the greater the exposure to ultraviolet radiation, the greater the production of melanin. Melanin is made from the amino acid tyrosine by an enzyme called tyrosinase. Without tyrosinase the reaction cannot take place, which causes a condition called albinism.

Problem

What happens if an enzyme is missing or defective?

Instructions

Research the effect of one of the following enzyme deficiencies:

• phenylketonuria • galactosemia • lactose intolerance

For the enzyme deficiency that you have selected:

1. Identify the enzyme involved and its function.

2. Examine how a person's health is affected by this enzyme deficiency.

3. Find out how the deficiency is diagnosed.

4. Describe the effects of not treating the deficiency.

5. How common is this condition in humans?

Teacher Notes

Time 45 minutes

Teacher Preparation

Student Difficulty

Post-Lab Discussion Remind students that most metabolic processes consist of several reactions. Ask, What happens if one enzyme in a pathway is missing or defective? The entire pathway is shut down. The products in the reaction before the blocked reaction will accumulate. These accumulated products may be toxic.

ANSWERS

Phenylketonuria (PKU): This condition results when the enzyme phenylalanine hydroxylase cannot be produced by the body. This enzyme is needed to change phenylalanine into tyrosine. If the condition is left untreated, phenylalanine builds up in the blood, causing rashes, seizures, and severe mental retardation. In most states newborn babies are given a blood test to screen for PKU. Treatment includes a diet that almost excludes phenylalanine.

Galactosemia: This condition results when the enzyme needed to break down the simple sugar galactose is absent. Galactose is a sugar found in milk. Symptoms in untreated newborn babies that are being fed milk include vomiting, jaundice, poor weight gain, and convulsions. If left untreated, liver and brain damage will occur. A diagnosis is made through blood and urine tests. Treatment includes a lifelong restriction of milk and milk products from the diet.

Lactose intolerance: This condition results when the body cannot produce the enzyme lactase, which breaks down the sugar lactose. Symptoms include diarrhea, gas, and abdominal cramps after consuming dairy products. Treatment includes avoiding dairy products and substituting other sources of calcium.