Pompe Disease Plan For my graded unit I have chosen a genetic disorder called Pompe disease as my topic to research and write about. After looking at a number of different genetic disorders, I have chosen Pompe disease. This topic relates to the cell biology aspect of my course, where in cell biology we study the structure, the function and the physiological properties of a cell and through out this report I will be writing about the cells that are affected by pompe disease. This report will consist of three main stages: the “Planning stage” which is this part of the report where I intend on using my aims and objectives for this project as my subheadings to write about the disorder Pompe disease to achieve a successfully report. The Development
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These three types of pompe diseases are called, “Classic form of infantile-onset” the first type that appears in a few months old babies within of birth. “Non-classic infantile-onset” the second type that appears at the age of a 1 year old child. The third type “late-onset” which becomes apparent later on in childhood or when an adult.
If there is a cure for Pompe disease and what the treatment is? There is no cure for the Pompe disease however, there is treatment. Where the enzyme called therapy (ERT) can be used as a substitute for the missing enzyme alpha-glucosidase (GAA). This treatment is carried out every other week is very successful. There is also therapy treatment, but is not as effective in skeletal muscle.
Evaluation As I am writing this report I will be evaluating each subheading in my mind, as well as writing a finial evaluating at the end of my report about Pompe disease. As well as writing about what I think about Pompe disease, as in how it affects the body’s cells. Also how affective the treatment can be to the cells, using the facts and figures that I have found while researching Pompe
These three types of pompe diseases are called, “Classic form of infantile-onset” the first type that appears in a few months old babies within of birth. “Non-classic infantile-onset” the second type that appears at the age of a 1 year old child. The third type “late-onset” which becomes apparent later on in childhood or when an adult.
If there is a cure for Pompe disease and what the treatment is? There is no cure for the Pompe disease however, there is treatment. Where the enzyme called therapy (ERT) can be used as a substitute for the missing enzyme alpha-glucosidase (GAA). This treatment is carried out every other week is very successful. There is also therapy treatment, but is not as effective in skeletal muscle.
Evaluation As I am writing this report I will be evaluating each subheading in my mind, as well as writing a finial evaluating at the end of my report about Pompe disease. As well as writing about what I think about Pompe disease, as in how it affects the body’s cells. Also how affective the treatment can be to the cells, using the facts and figures that I have found while researching Pompe