Glycogen Storage Disease type 1a

Glycogen Storage Disease type 1a
1. Glycogen storage disease type 1a is a metabolic disorder. This genetic disorder results by defects in the gene for an enzyme called glucose-6-phosphatease. This disorder prevents the release of glucose form the liver into the bloodstream causing low blood glucose. Reduced glycogen breakdown results in increased glycogen storage in the liver and kidney and cause enlargement of both organs. Approximately one in 100,000 people carries a mutation in both copies of the gene and affected by the disorder. Jewish people are most affected because of prevalence of a particular mutation among Jews and central and eastern European descent. GSD type 1a is inherited in a recessive manner, which means that only a child who receives two mutated copies of the gene for G6pase will get the disease. More than 85 known mutation of the gene have been documented.
2. One of the benefits of personal genetic testing is knowing about your health condition in the future. It will encourage you to choose a healthy life style in order to prevent certain diseases. However, one of the concerns would be that knowing what disease you might get in the future will make you stressful and lead you to a serious depression.
3. If I could undergo personal genetic testing from 23andMe for free, I would not do it because I am skeptical about this test and I don’t believe it is true. In addition, I don’t want to know what disease I might get in the future because it will affect my self steam and make my life miserable.