Glycogen storage disease type III

Overview

What is glycogen storage disease type III?

Glycogen storage disease type III, or GSD III, is a genetic condition where your body cannot break down glycogen into glucose for energy. Typically, our bodies store extra energy from our food as glycogen. In between meals (also called fasting), our bodies turn the glycogen into glucose to give us energy. People with GSD III have a genetic change which makes their bodies unable to turn stored glycogen into glucose. Instead of acting as a source of energy between meals, the glycogen builds up in the liver and/or muscles and causes the signs and symptoms of glycogen storage disease type III.

GSD III is one of many types of glycogen storage diseases. Each one has a unique genetic cause and affects the body in different ways. The group of conditions all involve the build up of glycogen in our bodies leading to health problems. Specifically, people with glycogen storage disease type III may have low blood sugar, seizures, delayed growth and enlarged organs if not treated. Initially people with GSD III have low blood sugar. The best person to evaluate whether the cause of the low blood sugar is a glycogen storage disease is a pediatric metabolic or genetic specialist. Genetics and metabolic doctors in your area can be found by talking with your child's pediatrician or family doctor or by using the Find A Genetic Service tool at the American College of Medical Genetics.

References
  • http://www.agsdus.org/html/typeiiigsd.html
  • 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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Are there other names for glycogen storage disease type 3?

How common is glycogen storage disease type 3?

What is the usual abbreviation for glycogen storage disease type 3?

Is glycogen storage disease type 3 more common in certain people?

What are the different forms of glycogen storage disease type 3?

What is the outcome for children with glycogen storage disease type 3?

Are there other names for glycogen storage disease type 3?

Glycogen storage disease type III (GSD III or GSD 3) has many other names. See the list of other names for GSD III below. To learn if there is another name for GSD III a doctor might use, ask them if they are using another term for glycogen storage disease, type III or look on a reliable website such as Genetics Home Reference

  • Forbes disease
  • Cori disease
  • Limit dextrinosis
  • Amylo-1,6-glucosidase deficiency
  • AGL deficiency
  • Glycogen debrancher deficiency
  • GDE deficiency
  • Glycogen storage disease IIIa
  • Glycogen storage disease IIIb
References
  • http://www.omim.org/entry/232400
  • 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/
How common is glycogen storage disease type 3?

Glycogen storage disease type III (GSD III) affects approximately 1 in every 100,000 people in the United States. It is more common in the North African Jewish and Faroese populations, where it affects approximately 1 in every 3,000 to 5,000 people. In order to learn more about you or your family's risks for GSD III, you can discuss your family history and background with your main doctor or a genetic counselor.

What is the usual abbreviation for glycogen storage disease type 3?

Glycogen storage disease type 3 is usually abbreviated as GSD III. The initials GSD can refer to any glycogen storage disease, so always look for the roman numerals following GSD to identify which type is being used in an article, webpage, or other document.

References
  • http://www.omim.org/entry/232400
  • 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/
Is glycogen storage disease type 3 more common in certain people?

Glycogen storage disease type III is more common in the North African Jewsish population and people of Faroese descent. Boys and girls are equally likely to have glycogen storage disease type 3. In order to learn more about you or your family's risks for GSD III, you can discuss your family history and background with your main doctor or a genetic doctor.

What are the different forms of glycogen storage disease type 3?

There are two different forms of glycogen storage disease type III (GSD III), based on differences in their symptoms. Both of the types of GSD III are caused by the same gene changes

  • GSD IIIa: This form of GSD III affects both the liver and muscles, including the heart. This is the most common form of GSDIII and occurs in 85% of people with GSD III.
  • GSD IIIb: This form of GSD III affects only the liver. About 15% of people with GSDIII have this type.
What is the outcome for children with glycogen storage disease type 3?

The outcome for children with glycogen storage disease III (GSD III) varies and usually depends on how a child is managed. Children with GSD III who follow a strict diet and have close care when ill usually have good growth and development. When treated well over time, GSD III does not affect your child’s intellectual or developmental abilities. However, children and babies who do not receive prompt treatment and control of the diet almost always have developmental disabilities and may have a shorter lifespan from the health problems.

People with GSD IIIa may also have heart problems that can start in childhood or adolescence. It will be important for a child with GSD IIIa to also be followed by a heart doctor also called a cardiologist.

The liver problems in GSD III typically get better over time. The most common liver problem in GSD III is an enlarged liver (hepatomegaly). However, in a small amount of people with GSD III the liver problems may worsen and may result in a liver transplant.

It is important that children with GSD III are followed closely throughout life by a genetic or metabolic doctor. Genetics and metabolic doctors in your area can be found by talking with your child's pediatrician or family doctor or by using the Find A Genetic Service tool at the American College of Medical Genetics.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK26372/
  • "Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome."Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ5, Steuerwald U, Beauchamp NJ, Taybert J, Laforêt P, Petit FM, Hubert A, Labrune P, Smit GP, Derks TG. J Inherit Metab Dis. 2016 Apr 22.

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