Symptoms And Treatment Of Pompe 's Disease Essay

2270 Words Nov 28th, 2016 10 Pages
Background Pompe’s disease is a glycogen storage disease caused by mutation in a gene coding for the acid 1-4 alpha-glucosidase (GAA), the key enzyme in glycogenolysis within lysosomes. GAA deficiency results in accumulation of glycogen and successive enlargement of lysosomes. As the lysosomes enlarge, there is also accumulation of other related byproducts, overtaking the space regularly occupied by myofibrils and impeding their function (Lewandowska E et al., 2008). Individuals with a complete loss of GAA activity usually do not live past the age of 2, usually dying from heart failure (Hesselink RP et al., 2003)(Sun B et al., 2015). Individuals with incomplete loss of GAA activity, or late-onset Pompe disease, typically survive until late adulthood but experience increasing muscle weakness with no major heart problems (Sun B et al., 2015).
Pompe’s disease is also known as glycogen storage disease type II, other GSDs include type I (Von Glerke), type III (Cori), type IV (Anderson), type V (McArdle), type VI (Hers), and type VII and VIII. Currently, the only treatment commonly used for patients with Pompe’s disease is enzyme replacement therapy, or ERT. ERT has greatly improved the health of many patients and prolonged their survival, but it does not work for all people and many people discontinue use of ERT after some period of time; after stopping ERT they have no other strong options for treatment (Sun B et al., 2015). There have also been recent attempts to research…

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