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Genetic and Rare Diseases Information Center (GARD)

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Glycogen storage disease type 5

Other Names for this Disease
  • GSD 5
  • McArdle disease
  • McArdle type glycogen storage disease
  • Muscle glycogen phosphorylase deficiency
  • Myophosphorylase deficiency
More Names
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Your Question

I have glycogen storage disease type 5. I have also had fatty liver for as long as I can remember. In addition my CPK levels on a good day can be 800. Can my liver problems be attributed to glycogen storage disease type 5?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is glycogen storage disease type 5?

Glycogen storage disease type 5 is a genetic disorder that prevents the body from breaking down glycogen. Glycogen is an important source of energy that is stored in muscle tissue. Signs and symptoms may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. Symptoms tend to begin in early adulthood (20s-30s). It is caused by mutations in the PYGM gene and is inherited in an autosomal recessive fashion.[1]
Last updated: 4/15/2010

Do CPK levels tend to be higher in people with glycogen storage disease type 5?

CPK stands for creatine phosphokinase, or just creatine kinase. Creatine kinase is an enzyme found in the heart, brain, skeletal muscle, and other tissues.[2] Creatine kinase levels in our blood comes mainly from our muscles.[2] Blood levels of creatine kinase rise when muscle or heart cells are damaged.[2] People with glycogen storage disease type 5 do tend to have a higher resting blood CPK concentration.[3] "Normal" creatine kinase levels tends to be considered values less than 170 IU/L. People with glycogen storage disease type 5 often have creatine kinase values around 1,000 IU/L.[3]
Last updated: 4/15/2010

Does glycogen storage disease type 5 cause fatty liver?

We are not aware of an association between glycogen storage disease type 5 and fatty liver. We do however recommend that you discuss this question further with your healthcare provider. In the meantime, click here to visit the American Liver Foundation's Web page to learn more about common causes of fatty liver.
Last updated: 4/15/2010

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 1/21/2014