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Biochemistry Case Studies Essay Sample

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Biochemistry Case Studies Essay Sample


The two case studies given both involve in the processes of making energy that the body needs to maintain and sustain life. Each case is a different diagnosis but they both have some involvement in the production of ATP and other products when creating energy. If someone has an issue with the production of energy it is hard to maintain life in the body. The body has many different enzymes that are needed to reacts with others that then create what we need in the body. Everything has their own special role and when that certain enzyme or thing is missing it affects many other things in the body. In case study one; the patient is diagnosed with hereditary fructose intolerance with many symptoms including: loss of appetite, jaundice, kidney and liver not functioning, and generalized tremors. Hereditary fructose intolerance is when the person is lacking the enzyme that is needed to break down fructose. Enzymes are able to simplify chemical reactions, reduce energy requirements and achieve the desired results with incredible precision (http://www.sternenzym.de/english/enzymes/index.html).

In enzymatic processes the risk of unintentional side reactions can be excluded almost entirely, since each enzyme fits only one substrate like a key in a lock: it only boosts the reaction to which it belongs (http://www.sternenzym.de/english/enzymes/index.html). The enzyme that is missing is called the aldolase B. When this enzyme is missing the body cannot break down fructose which then chemically alters the process of changing glycogen into glucose. Blood sugar may fail and then causes the liver to store substances that are dangerous to the body. Aldolase B is found in the liver but also in the kidneys and intestinal. Aldolase B is responsible for the second step in the metabolism of fructose, which breaks down the molecule fructose-1-phosphate into glyceraldehyde and dihydroxyacetone phosphate (http://ghr.nlm.nih.gov/gene/ALDOB). Aldolase B is also involved in the breakdown of the sugar glucose as well as fructose. The phosphate groups that are formed after the metabolism of fructose are used in other productions for instance the production of ATP.

The aldolase B enzyme is found on chromosome 9. This intolerance can be inherited if both parents carry the gene but it would still only be a slim chance of actually getting the intolerance but that is how it happens. It’s estimated that it happens to about one in twenty thousand people. If diagnosed with this intolerance, a fructose free diet would be beneficial in follow. The symptoms are consistent with the diagnosis as well as the effects of what would happen if the patient is lacking the aldolase b enzyme. In case study two the patient is diagnosed with mitochondrial disease. Mitochondrial disease can happen at many levels so a better understanding of what level the patient is at will help determine how to help the patient. Mitochondria are pretty much in total control of the amount of energy produced for the body to maintain life and to also help with growth. When the mitochondria do not work properly the cells get injured and eventually cell death may occur.

If this occurs, many systems can fail. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems

(http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm). Without mitochondria the cells in our bodies cannot even make the DNA and RNA needed for our bodies to maintain life. Mitochondria are required for cholesterol metabolism, for estrogen and testosterone synthesis, for neurotransmitter metabolism, and for free radical production and detoxification (http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm).

Mitochondria is also in the helping of breakdown the fats, carbohydrates, and proteins we eat and drink. Mitochondria is needed for many cycles in the body but the citric acid cycle (or also known as the Krebs cycle) and the Cori cycle is one of the most important ones that it takes place in. The citric acid cycle has eight steps but from one glucose molecule you get 38 ATPs for the body to use. The Cori cycle only works under aerobic conditions as the citric acid cycle can work under anaerobic conditions. Both cycles use ATP to produce energy. In glycolysis produces pyruvic acid which then gets turned into acetoyl coa and then is turned into ATP in the citric acid cycle by using the electron transport chain. Mitochondria are very important in the processes throughout the body in the production of energy used by the body.

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