More and more researchers are discovering that many diseases are caused by biochemical deficiencies or defects. That is, instead of indicating that a disease is caused by a nutritional deficiency, researchers recognize that an underlying cause may be a single molecular structure within a cell that fails to turn a cellular process on or off. This is particularly true regarding metabolism. For this task, you will consider the biochemical implications in a metabolic disorder involving a normal component of food—fructose.

You should compile your work for this task in a single document (e.g., Microsoft Word, Google Document) that includes diagrams, text explanations, and references. If a requirement asks for an explanation, you should provide a written response in a narrative style (i.e., complete sentences rather than bullet points).


A. Demonstrate your understanding of the biochemical basis of hereditary fructose intolerance (HFI) by doing the following:
1. Describe two important features that make all enzymes catalysts.
2. Create an original diagram, or series of diagrams, with clear labels, that demonstrates the entire enzymatic cycle described by the lock and key model OR the induced fit model.
3. Create an original diagram, or series of diagrams, with clear labels, that illustrates the activation energy of a reaction in the presence and absence of an enzyme.
4. Explain the reactions catalyzed by enzymes in the first two steps of fructose metabolism in the liver, including each of the following:
● the substrates acted on
● the enzyme catalysts
● the products generated
5. Discuss how a deficiency in aldolase B is responsible for HFI by doing the following:
a. Explain how the amount of the substrate of aldolase B is impacted by the deficiency.
b. Explain the role of the substrate in producing one condition of HFI (e.g., hypoglycemia, liver failure).

B. Explore how mitochondrial disease can occur at multiple levels in different mitochondrial processes by doing the following:
1. Explain what would hypothetically happen to the amount of ATP available to a cell if the entire Cori cycle were to occur and remain within a single cell (e.g., a muscle cell).
a. Identify specific numbers of ATP generated and used in the different parts of the cycle, in conjunction with your response from part B1.
2. Create an original dynamic diagram that shows how the citric acid cycle (CAC) is central to aerobic metabolism.

Note: A dynamic diagram is a clearly labeled diagram that uses arrows to indicate movement and interactions.

3. Explain where in the CAC a hypothetical defect of an enzyme could occur that would decrease the overall ATP production of the mitochondria, including each of the following:
● whether the entire cycle will continue to function
● what will happen to the cycle products
● why ATP production decreases

Note: This is a hypothetical defect, so the explanation should not include descriptions of any known disease.

4. Explain how a proton gradient is formed and used to make ATP during aerobic metabolism.

Note: The inclusion of a discussion of the electron transport chain and oxidative phosphorylation, including the role of oxygen, aids in the explanation of this process.

C. When you use sources, include all in-text citations and references in APA

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Hereditary fructose intolerance (HFI) is an inborn error of metabolism in which a person is unable to digest the fructose i.e., fruit sugar. The sign and symptom for the disease will appear after ingestion of fruits, juices, or other foods containing fructose are introduced into the diet (Chiba et al., 2012). Main reason for the HFI is due to the defect in the enzyme of fructose metabolism aldolase B (fructose-1-phosphate aldolase). The disease will have signs and symptoms like nausea, bloating, abdominal pain, diarrhea, vomiting, and hypoglycemia. In case of infants, they does have failure to thrive and may fail to grow and gain weight at the expected rate (Ali et al., 1998)....
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