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.

References
  • 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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Is there newborn testing for glycogen storage disease type 3?

Who else in my family should be tested for glycogen storage disease type 3?

How is glycogen storage disease type 3 diagnosed?

How can I tell if I am a carrier for glycogen storage disease type 3?

Can you test for glycogen storage disease type 3 in a pregnancy?

Is there newborn testing for glycogen storage disease type 3?

Glycogen storage disease type 3 (GSD III) is not on the newborn screen that is performed for every child after birth. However, a newborn can be tested for GSD III through a blood test looking for genetic changes in the AGL gene. Your doctor can order testing for GSD III if you have a family history of GSD III, if you and your partner are known to be carriers for GSD III or if your child begins showing symptoms of GSD III.

References
  • http://www.babysfirsttest.org/
  • 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/
Who else in my family should be tested for glycogen storage disease type 3?

If your child has glycogen storage disease type 3 (GSD III), it is likely you and your partner are carriers for GSD III. Carriers are people who do not have GSD III health problems themselves, but can pass on genetic changes which cause GSD III. Your siblings may also be carriers for GSD III. They can speak to a genetic counselor about their chances of having a child with GSD III.To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

If you and your partner have additional children, there is a 1 in 4 or 25% chance that child could have GSD III. Additional children should be evaluated by your main doctor or a genetic specialist to evaluate for GSD III.

How is glycogen storage disease type 3 diagnosed?

Glycogen storage disease type 3 (GSD III) can be diagnosed with blood tests to look a certain markers of the liver and muscle that are usually increased in people with GSD III. Genetic testing may also be performed to diagnose GSD III. In some cases, a liver biopsy which is a sample of liver tissue is performed to look for changes in the liver that can diagnose GSD III. If you are concerned your child may have GSD III discuss this with your main doctor or genetic specialist who may order tests to give a diagnosis of GSD III.

How can I tell if I am a carrier for glycogen storage disease type 3?

A carrier of a genetic condition like glycogen storage disease type III (GSD III) do not have any medical problems or symptoms of GSD III. Carriers have one copy of the AGL gene which does not have any changes (normal copy) and one copy of the AGL gene with a change called a mutation. Because carriers have one normal copy of the gene, they are healthy and do not have any of the medical issues associated with GSD III. This can make it difficult to find out a person is a carrier for GSD III without doing a blood test to look for gene changes in the AGL gene. If you have a family history of GSD III or are of Faroese or North African Jewish descent, your doctor or genetic counselor can order a blood test to see if you are a carrier of GSD III.

Can you test for glycogen storage disease type 3 in a pregnancy?

It is possible to test a pregnancy for glycogen storage disease type III (GSD III) by amniocentesis or chorionic villus sampling (CVS). Amniocentesis uses a needle guided by ultrasound to find a pocket of fluid away from the baby to take some cells for examination. CVS uses a similar approach to sample cells of the placenta. Looking at the genetic information in these cells will allow the laboratory to determine if the pregnancy has glycogen storage disease type 3 by identifying the known genetic changes. If you and your partner are carriers for GSD III and would like to consider testing a pregnancy, speaking with a doctor or genetic counselor about the benefits and limitations of this procedure is important. If you would like to do testing while you are pregnant it is important that you talk to your doctor about it as soon as you know you are pregnant. To find a genetic counselor near you, use the "find a genetic counselor" tool at the National Society of Genetic Counselors website

References

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