Glycogen storage disease type 13

What causes glycogen storage disease type 13?

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.

Last updated on 05-01-20

How is glycogen storage disease type 13 diagnosed?

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.

Last updated on 05-01-20

Is hypoglycemia associated with glycogen storage disease type 13?

Unfortunately, because glycogen storage disease type 13 is very rare, there is limited information about the associated features of this condition. However, the first individual known to have GSD13 did not have hypoglycemia.

Last updated on 05-01-20

What is glycogen storage disease type 13?

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.

Last updated on 05-01-20

Name: Metabolic Support UK 5 Hilliards Court Sandpiper Way
Chester Business Park
Chester, CH4 9QP, United Kingdom
Phone: 0845 241 2173 Toll Free: 0800 652 3181 Email: https://www.metabolicsupportuk.org/contact-us Url: https://www.metabolicsupportuk.org
Name: Association for Glycogen Storage Disease UK Old Hambledon Racecourse Sheardley Lane
Droxford, Southampton, SO32 3QY
United Kingdom
Phone: 0300 123 2790 (Office hrs, Mon-Thurs) or 0300 123 2799 (Out of hours) Url: http://www.agsd.org.uk/
Name: International Association for Muscle Glycogen Storage Disease IAMGSD 746 4th Avenue
San Francisco, CA, 94118,
Email: info@iamgsd.org Url: https://www.iamgsd.org/
Name: International Association for Muscle Glycogen Storage Disease IamGSD 746 4th Avenue
San Francisco, CA, 94118, United States
Email: info@iamgsd.org Url: https://www.iamgsd.org/ Contact form: https://www.iamgsd.org/contact-us

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