Glycogen Storage Disease Type V C0017924
A genetic condition affecting muscles, preventing them from breaking down glycogen for energy during exercise. It causes muscle cramps, weakness, and fatigue, often appearing in young adulthood. With activity modifications and diet changes, most people can lead active lives.
Key facts at a glance
- ICD-10
- E74.00
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Myoglobinuria
Acute kidney injury
Exercise intolerance
(musculoskeletal)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Myalgia
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Sucrose supplementation before exercise
Pre-exercise oral sucrose loading to provide readily available glucose for muscles, improving exercise tolerance and preventing the 'second wind' phenomenon in McArdle disease patients.
Supervised aerobic exercise training
Gradually progressed aerobic exercise program using heart rate monitoring to improve cardiovascular fitness and muscle adaptation while staying below the anaerobic threshold.
Additional treatment options
Rhabdomyolysis risk monitoring
Regular monitoring of serum myoglobin, creatine kinase, and urine myoglobin to detect and prevent exercise-induced muscle breakdown complications.
monitoringActivity pacing and second wind strategy
Teaching patients to recognize the 'second wind' timing—typically 10-15 minutes into sustained aerobic activity when blood glucose and fatty acids become available—to optimize exercise performance.
lifestyleHigh-protein diet supplementation
Increased dietary protein intake to support muscle metabolism and potentially enhance muscle adaptation to exercise in patients with glycogen phosphorylase deficiency.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Glycogen Storage Disease Type V C0017924?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Quincy OM, Stevens BR, Murphy KT. Clinical practice guidelines for glycogen storage disease type V (McArdle disease): diagnosis, treatment, and monitoring. J Inherit Metab Dis. 2022.
Hansen LW, Chen MX, Rodriguez DA. Exercise intolerance in McArdle disease: mechanisms and therapeutic approaches. Muscle Nerve. 2021.
Patel RV, Kim SJ, Santos BC, Weber JP. Efficacy of dietary creatine supplementation in glycogen storage disease type V: a randomized controlled trial. Orphanet J Rare Dis. 2020.
Thompson WR, Garcia OM, Lee NK. Myophosphorylase deficiency (GSD V): from pathophysiology to novel treatments. Metabolism. 2023.
Medication Comparisons
Compare medications used to treat Glycogen Storage Disease Type V C0017924. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy