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?
Glycogen storage disease type 5 (GSDV) 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. People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Usually, when people with this disease rest after brief exercise they can resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). The signs and symptoms can vary significantly and may include burgundy-colored urine, fatigue, exercise intolerance, muscle cramps, muscle pain, muscle stiffness, and muscle weakness. It is caused by mutations in the PYGMgene and is inherited in an autosomal recessive fashion. There is no cure or specific treatment but the disease can be managed with moderate-intensity aerobic training (e.g., walking or brisk walking, bicycling) and diet.
Last updated: 1/2/2016
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. Creatine kinase levels in our blood comes mainly from our muscles. Blood levels of creatine kinase rise when muscle or heart cells are damaged. People with glycogen storage disease type 5 do tend to have a higher resting blood CPK concentration. "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.
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
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