National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Glycogen storage disease type 13


Other Names:
GSD13; Glycogen storage disease 13; Enolase-beta deficiency; GSD13; Glycogen storage disease 13; Enolase-beta deficiency; Enolase 3 deficiency See More
Categories:
Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles.  The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain.  GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.[1]
Last updated: 6/24/2012
Glycogen storage disease type 13 causes muscle pain (myalgia).  Individuals with GSD13 also experience exercise intolerance, which means they have difficulty exercising because they may have muscle weakness and tire easily.[1]
Last updated: 6/24/2012

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Adult onset
Symptoms begin in adulthood
0003581
Autosomal recessive inheritance 0000007
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] 		0003236
Exercise intolerance
Decreased ability to exercise
Inability to exercise
[ more ] 		0003546
Increased muscle glycogen content 0009051
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
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Last updated: 7/1/2020
Glycogen storage disease type 13 (GSD13) is caused by changes (mutations) in the ENO3 gene.  Glycogen is a substance that is stored in muscle tissue and is used as an important source of energy for the muscles during movement and exercise.  The ENO3 gene makes a chemical called enolase, which is an enzyme that helps the muscles use glycogen for energy.  In GSD13, the ENO3 genes do not work properly such that the body cannot make enolase, and as a result, the muscles do not have enough energy to work properly.[1]
Last updated: 6/24/2012
Glycogen storage disease type 13 is diagnosed by taking a sample of muscle tissue (muscle biopsy) to determine if there is enough of the chemical enolase working in the muscle cells.  Genetic testing can also be done to look for changes (mutations) in the ENO3 gene.[1]
Last updated: 6/24/2012

Testing Resources

  • 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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 13. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I would like to know the background, physical presentation, and diagnostic tests for glycogen storage disease type 13.  I am particularly interested in learning if hypoglycemia is part of this disease. See answer


  1. Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N. Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals of Neurology. 2001; 50:202-207. http://www.ncbi.nlm.nih.gov/pubmed/11506403. Accessed 6/20/2012.