Glycogen storage disease

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    What is glycogen storage diseases type I (GSD1)? Glycogen Storage disease type I (GSD1) is the most common type of glycogen storage disease detected in most people. An inherited defect in the enzyme glucose – 6 – phosphatase (G6Pase) is the sole cause of this metabolic disease. GSD1 can be categorized even further into two sub categories based on its location and other defects, GSD type Ia and GSD type Ib. Without G6Pase properly functioning, there would be a break in the final step of gluconeogenesis and the body would be unable to supply the blood with glucose. \ Why do individuals with GSD1 have severe…. Fasting hypoglycemia: Blood glucose levels are low in GSD1 patients due to the defect/blockage in the individuals G6Pase used during gluconeogenesis.…

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    Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles…

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    McArdle syndrome, also known as glycogen storage disease type V (GSD V) is a rare genetic autosomal recessive disease of the muscle tissue or myopathy caused by the body’s inability to produce phosphorylase; “an enzyme that catalyzes the formation of glucose-1-phosphate from glycogen.” (Taber’s Cyclopedic medical Dictionary). Without it, sugar or glycogen stored in the muscles cannot be used to produce energy resulting in fatigue, severe muscle pain and cramping after momentary exercise.…

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    • The body maintains dynamic constancy, or homeostasis, of the internal environment through the use of antagonistic effectors and negative feedback loops. • The hormones, glucagon and insulin, work to manage blood sugar within normal levels and reduce fluctuations. For instance, when blood sugar levels rise, insulin hormones are released from the pancreas to guide these glucose molecules out of the blood stream and into the body’s muscle, adipose, and liver cells, along with most other cells in…

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    substances like glucose and oxygen to the muscles throughout aerobic exercise. This is important as during the exercise period ATP is needed by the muscle cells to carry out the contractions. This occurs through respiration. Respiration is crucial as the cells cannot get energy directly from glucose, hence the ATP production. “ATP is synthesised from ADP and an inorganic phosphate using energy from the breakdown of glucose. The energy is stored in this phosphate bond.” (Parsons, 2009, p104) ATP…

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    Skeletal muscles are made of three different muscle fiber types. All muscle fibers are having varying amounts of mitochondria in them. Mitochondria helps the muscle be able to manufacture ATP for contraction. To differentiate between the three muscles is based on their make up. Slow oxidative (SO) or type one muscle fibers are composed with the most mitochondria to help them be fatigue resistant. SO muscle fibers stain the darkest because the enzyme targeted by the stain is most abundant in this…

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    Muscles In Racehorses

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    They can look at the amount of, and different types of muscle fibers found in thoroughbreds, the muscles ability to adapt to high intensive exercise, the effects from changing the inclination the horse is exercising on, and if age and gender affect the way the muscles react. The thoroughbred horse stems back to a founder stallion that makes up 95% paternal and 9 to 10 founder mares that can make up 72% of the maternal lineage. The characteristics looked for in good race horses are large lung…

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    Actinin-3 Essay

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    influences elite power and strength performance. This conception has been proven correct, because several studies have been conducted where athletes were genotyped and compared to their sport or activity. I also believe that although genetics plays an enormous role in athletic performance, the environment also has its contributions. If an individual is surrounded by family that do not exercise regularly or do not have a healthy diet, and actually carry an R version of the allele, this genotype…

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    to low the hormone glycogen is produced. They both come from the pancreas but insulin also helps glucose get transported into the cells (Quesada et al., 2008). The body uses glucose as a primary source of energy through a variety of metabolic reactions. Glucose is a sugar that gets broken down through glycolysis into ATP (Adenosine triphosphate) inside of the cell (Stanfield, 2013). When there is an excess of glucose, the liver converts it to glycogen through a process called glycogenesis…

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    Abuse Of Peds In Sports

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    Worth the Risk? Performance Enhancing Drugs (PEDs) are substances used to improve any form of performance in humans and boost self-confidence. Athletes and bodybuilders take PEDs. Military personnel use them to enhance combat performance. PEDs came along in the beginning of the Olympics Games (776-393 BC) because athletes were concentrated on winning. Many athletes wanted the edge over their rivals and wanted to make sure their performance was going to be the best it could be. A growing…

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