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Genetic Disorder Essay

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Genetic Disorder Essay
Genes are codes for certain function that are found in DNA. The combination of genes is what makes each individual unique. MCADD is a genetic disorder, caused by a mutation or damage to the gene, ACADM, that codes for the enzyme, medium chain acyl CoA dehydrogenase. This results in the enzyme being absent or existing in minimal quantities. An enzyme increases the rate of a chemical reaction. Our body needs many enzymes in order to make the materials needed for our bodies to function and be healthy. The mutation that causes this disease is most often a nucleotide base replacement, occurring at the 985th position. Nucleotides are the basic units that make up nucleic acids like DNA. The replacement that is most common is the replacement of a …show more content…
Fats or fatty acids can be broken down as a source of energy to restore blood sugar levels when glucose (sugar) levels are depleted. Glucose levels are usually low after exerting a lot of energy or not eating for a long period of time. Fatty acids need an enzyme called medium chain acyl CoA dehydrogenase in order for their long chains to be broken down into smaller ones. This disease is caused by a deficiency in this enzyme, which means that fat cannot be broken down completely and used as a source of energy. Fatty acids of medium length would buildup in the bloodstream and the body, causing major health problems. This also means that fasting could be detrimental to an individual with this disease. After not eating for a long period of time, blood sugar levels would drop and without the metabolism of fatty acids to restore glucose levels, energy would not be able to be produced and glucose levels would remain low. During fasting, the body normally converts fatty acids into smaller units called ketone bodies. Ketone bodies are small, water soluble compounds that can be picked up by the brain and muscle cells to be used as fuel to produce energy. During a period of fasting, an individual would not be able to completely break down fatty acids to produce ketone bodies therefore, leading to brain damage because it does not receive the energy it needs to perform its

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