Glycogen storage disease type 5

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 on 05-01-20

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 on 05-01-20

What is 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 PYGM gene 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 on 05-01-20

Healthcare Resources

Association for Glycogen Storage Disease UK

The Association for Glycogen Storage Disease UK has resources for people affected by glycogen storage disease type 5. This includes guidance for emergency situations, a link to the UK McArdle Clinic, and 101 Tips for a Good Life with McArdle Disease.

Last updated on 04-27-20

Where To Start

Association for Glycogen Storage Disease

The Association for Glycogen Storage Disease has a page with an overview of Glycogen storage disease type 5.

Last updated on 04-27-20

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 PO Box 896
Durant, IA, 52747 , United States
Phone: 1-563-514-4022 Email: info@agsdus.org Url: http://www.agsdus.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: Children's Fund for Glycogen Storage Disease Research, Inc. 20 Sherwood Lane
Cheshire, CT, 06410, United States
Phone: 203-272-7744 Email: info@curegsd.org Url: http://www.cureGSD.org
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
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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