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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 3


Other Names for this Disease

  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is glycogen storage disease type 3 diagnosed?

Glycogen storage disease type 3 (GSDIII) should be suspected when three main features are present: hepatomegaly (enlarged liver), ketotic hypoglycemia (low blood sugar accompanied by ketosis), and elevated serum concentration of transaminases (a type of enzyme) and CK. Debranching enzyme activity (which is deficient in individuals with the condition) can be measured in a liver biopsy, but this is now not typically necessary for diagnosis. Genetic testing of the AGL gene, the only gene known to be associated with GSDIII, confirms the diagnosis.[1]
Last updated: 2/13/2012

Is genetic testing available for glycogen storage disease type 3?

Yes. GeneTests lists the names of laboratories that are performing genetic testing for GSDIII. To view the contact information for the clinical laboratories conducting testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 2/13/2012

References
  1. Aditi Dagli, Christiaan P Sentner, David A Weinstein. Glycogen storage disease type III. GeneReviews. October 21, 2010; http://www.ncbi.nlm.nih.gov/books/NBK26372/. Accessed 3/2/2011.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Amylo-1,6-glucosidase deficiency
  • Cori disease
  • Forbes disease
  • Glycogen debrancher deficiency
  • Limit dextrinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.