Type 1 Glycogen Storage Disease

By Tiana and Ryan

What is GSD 1?

Glucose is stored in the body in the form of glycogenin our livers. It is used as a backup to maintain a steady level of glucose in the body. When someone has Type 1 Glycogen Storage Disease, GSD 1, there is a missing enzyme. The enzyme plays a role in releasing the glycogen to the body. If your liver is not releasing the glycogen from the liver, then you end up with low blood sugar. Hypoglycemia, which is caused by low blood sugar, makes a person feel tired and hungry a short while after eating. After a period of time, the liver becomes swollen and enlarged, which also makes the kidneys enlarged as well, because of the excess glycogen the liver was unable to release. The liver still functions normally, as does the kidneys, but the only difference is the release of glycogen.
LV14.jpg
Excess Glycogen built up within the walls of the liver


Molecularly Speaking...

Our bodies use enzymes to process glycogen and glucose and to release it back into our bodies when it is needed. However, GSD 1 lacks an enzyme by the name of glucose-6-phosphatase. This enzyme helps the liver to release the glycogen back into our system. The lack of activity of the enzyme causes the liver and several other organs to become enlarged but still functioning. The name truly speaks for itself. It allows glycogen in, yet doesn't release it.


Diagnosis

Typically, GSD 1 is found within infants and is treated immediately. By testing the sugar levels of the child, performing a biopsy on the liver, and having a genetics test run, the child is diagnosed early enough to treat this disease.


Treatment

Because this disease is usually caught when a person is an infant, the treatments are focused on the development of a child. Treatments include feedings throughout the day of cornstarch and water mixture or soy milk. Both of these help in the release of glucose from the liver and keep the sugar levels as normal as possible. The number 1 way to keep this disease under control is to follow a strict diet.


Symptoms



GSD 1 Isn't Your Only Problem

GSD 1 is also in a category with and may cause some of these diseases:




For more information about Type 1 Glycogen Storage Disease, please watch the video or visit any of the sites below:


References

http://www.ncbi.nlm.nih.gov/pubmed/10322403
http://www.liverfoundation.org/education/info/gsdi/

Pictures

http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/LV14.jpg
http://www.foxriverwatch.com/liver_damage.jpg