Learn About Glycogen Storage Disease Type 13

What is the definition of 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.
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What are the alternative names for Glycogen Storage Disease Type 13?
  • GSD13
  • Glycogen storage disease 13
  • Enolase-beta deficiency
  • Enolase 3 deficiency
What are the causes of 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.
What are the symptoms of Glycogen Storage Disease Type 13?
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.
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Who are the top Glycogen Storage Disease Type 13 Local Doctors?
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Neurology

Northwestern Medical Group - Neurosciences And Orthopaedics

Lake Forest, IL 

Charulatha Nagar is a Neurologist in Lake Forest, Illinois. Dr. Nagar has been practicing medicine for over 33 years and is rated as a Distinguished doctor by MediFind in the treatment of Glycogen Storage Disease Type 13. She is also highly rated in 21 other conditions, according to our data. Her top areas of expertise are Phosphoglycerate Kinase Deficiency, Glycogen Storage Disease Type 13, Glycogen Storage Disease Type 6, and Glycogen Storage Disease Type 7. She is board certified in Neurology and licensed to treat patients in Illinois. Dr. Nagar is currently accepting new patients.

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University Of Messina

Messina, IT 

Olimpia Musumeci is in Messina, Italy. Musumeci is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 13. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Pompe Disease, Glycogen Storage Disease Type 13, Rhabdomyolysis, and Myoglobinuria Recurrent.

 
 
 
 
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National Hospital For Neurology And Neurosurgery

London, ENG, GB 

Ros Quinlivan is in London, United Kingdom. Quinlivan is rated as a Distinguished expert by MediFind in the treatment of Glycogen Storage Disease Type 13. They are also highly rated in 14 other conditions, according to our data. Their top areas of expertise are Myoglobinuria Recurrent, Glycogen Storage Disease Type 5, Glycogen Storage Disease Type 13, and Pompe Disease.

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What are the Latest Advances for Glycogen Storage Disease Type 13?
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