Glycogen storage disease type III

Causes

What gene change causes glycogen storage disease type 3?

Changes in the AGL gene cause glycogen storage disease type III (GSD III). Typically, this gene tells our body how to break down glycogen into glucose, so it can be used as energy in between meals (also called fasting). When there is a change in this gene, our body cannot effectively turn glycogen into glucose. This causes our body to have less energy than it needs. Also since the glycogen is not being used, it instead builds up in the liver and muscle cells. This leads to the signs and symptoms of GSD III.

References
  • http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii
  • Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2012 Sep 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK26372/
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Does anything make glycogen storage disease type 3 worse?

Can anything else cause glycogen storage disease type 3?

Does anything make glycogen storage disease type 3 worse?

There are several things that can make the symptoms of glycogen storage disease type III worse. Because the body cannot breakdown glycogen, eating large quantities of sugar can make the symptoms worse. The body is not able to get rid of the extra sugar and so it builds up in the organs like the liver and heart and also in the muscles.

Also people with GSD III should eat regularly. If a person with GSD III skips meals or waits a long time between meals, the body is unable to refuel the energy. This can result in low blood sugars. To help with low blood sugars, people with GSD III often supplement meals with uncooked cornstarch. The cornstarch helps to keep the body's blood sugar at normal levels.

Certain medications can also cause the symptoms of GSD III to get worse. For example, steriods and growth hormones should be avoided. For a complete list of medications that people with GSD III should avoid, talk with your child's main doctor or genetic doctor.

Can anything else cause glycogen storage disease type 3?

Glycogen storage disease type III is a genetic condition. Therefore, only changes in the AGL gene cause glycogen storage disease type III. Gene changes can be inherited or passed through a family. Gene changes are not caused by the environment such as sicknesses, food/drink, or the weather. People cannot cause gene changes to happen. If you would like to discuss genes or gene changes in more detail, you can meet with a genetic counselor ( a trained professional in genes and genetic conditions). To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

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