Glycogen storage disease

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  • Pompe Disease: A Case Study

    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 of the body I chose Pompe Disease because of its effects on the muscular system. Also, I feel that, because of its specific effects directly on the lysosomes of cells causing it to be a rare disorder, it does not receive enough attention.…

    Words: 1517 - Pages: 6
  • Dynamic Constancy Case Study

    • 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…

    Words: 729 - Pages: 3
  • Iodine And Benedict Lab Experiment

    Three methods were comprised to determine the unknown but a set of other solution were used to help as indicators to match the unknown solution’s results. It consisted of biuret, iodine and benedict solution. Iodine solution is used to determine if the source had starch or glycogen. If the source had glycogen consisted inside, there would be a reddish-brown precipitation occurring (Daniel Luzon Morris,1946). Iodine can also react with the starch which could potentially create a The colour of…

    Words: 1813 - Pages: 8
  • Duchenne Muscular Dystrophy Research Paper

    Duchenne Muscular Dystrophy The body is like one huge scale that needs constant conservation to maintain balance for a stable state of survival. Homeostasis is the component that helps the body maintain balance. There are four core principles that help homeostasis keep balance which are, feedback loops, relationship of structure and function, gradients, and cell to cell communication. “Muscular homeostasis is cell to cell communication that coordinate their functions and maintain homeostasis…

    Words: 984 - Pages: 4
  • Stimulus Strength Investigation Report

    The results from the first experiment confirmed the hypothesis, to a certain extent, in that increasing stimulus strength will increase the force generated by the gastrocnemius muscle and visa versa till 0.2V, where the force germinated starts to decrease. As shown in Table 2 and Figure 2, the strength of the stimulus started from 0.00 V to 1.00V with 0.05 V and 0.10V intervals. At 0.10V the force generated by the muscle increases rapidly from 0mN to 288.33mN. The force generated by the muscle…

    Words: 817 - Pages: 4
  • Muscle Fiber Research Paper

    portray the systems by which muscle glycogen is separated to glucose for use in glycolysis. Depict how a nerve motivation is transmitted along its axon and clarify what are points of interest of fat over sugar for fuel stockpiling in the body is. At long last, I will depict the essential structure of the heart and the essential functions of the blood. (Baggett, n.d.) Discuss the relationship between…

    Words: 787 - Pages: 4
  • HCSMA Case Studies

    Hereditary canine spinal muscular atrophy (HCSMA) is proven to be an autosomal-dominate disease that affects most noticeably the Brittany spaniel (Pinter MJ, Waldeck RF, Wallace N, & Cork LC, Motor Unit Behavior in Canine Motor Neuron Disease, 1995). HCSMA originated as a spontaneous mutation in the Survivor Motor Neutron gene found in the purebred Brittany spaniel population (Ericsson. A & Rubin. C, 2012). Due to the co-dominate nature of the disease there are slight variation in the phenotype…

    Words: 1889 - Pages: 8
  • Abuse Of Peds In Sports

    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…

    Words: 2468 - Pages: 10
  • Actinin-3 Essay

    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…

    Words: 1395 - Pages: 6
  • Muscle Contraction Research Paper

    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…

    Words: 803 - Pages: 4
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