The Cure Essay Example | Topics and Well Written Essays - 750 words - 1

The Cure - probe ExampleThe deuce parents, Aileen, and John requested for an appointment with a doctor to examine the state of their two affected children. The diagnosis given to the children included Pompe for Megan while Patricks diagnosis was to come later in a few months.Pompe is a disease that is genetic in nature. It is due to unbroken glycogen that results from a deficiency in enzymes that breaks glycogen down. Sugar in the body builds up and is stored as glycogen. Glycogen is thusly deposited in the muscles of the body. The resultant effect is cells lacking energy and other necessities for them to function optimally. Consequently, the muscles bequeath go through a lot of malnourishment. The effects of Pompe will cover the respiratory system and the muscles. A common phenomenon is children death from a failure in the respiratory. The latter is also called cardiac arrest and occurs as the heart enlarges slowly. The life-time of children diagnosed with Pompe is significant ly reduced and only have a few years.The ca engage of Pompe is the mutations that the GAA gene undergoes. The task of GAA is the drudgery of alpha Maltese. Alpha Maltese is an enzyme that handles the breakdown of glycogen into glucose that is usable by the body. The enzymes production will fail if GAA undergoes mutation. Glycogen, as a result, is not decomposed to form pure sugar. However, the cells in the body make use of glucose and cannot do so with glycogen. Too much glycogen in the cells will become toxic to the body. The more(prenominal) the build of glycogen, the weaker the muscles get and the levels of damage get worse.Pompe is fair when traced in an adult as compared to a child. Although it is rare, it is advantageously fatal in children. There are three varied types of Pompe disease that doctors and scientist have established. Their differences come how flagitious they are and age of appearance. They include non-classic