Glycogen storage disease type III

Diagnosis and Testing

Is there testing for Glycogen storage disease, type 3?

There are several tests that a doctor can order to test for Glycogen storage disease, type III, (GSD III). There are three main findings that raise suspicion of GSD III., These include a enlarged liver, low blood sugar and abnormal blood tests of certain markers for the liver and muscles. Blood tests can look at how well the liver is working to help give clues to the doctor about the diagnosis. Also a doctor may order a study to measure blood sugar in between meals (fasting) to look for clues of GSD III. To confirm a diagnosis, a doctor may also order a blood test to look at the genetic material. Changes in the AGL gene result in the signs and symptoms of GSD III. If you are concerned your child may have GSD III, it is important to discuss the best testing method with your main doctor.

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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