Glycogen Storage Disease Due To Lactate Dehydrogenase M Subunit Deficiency C2931743
A rare metabolic disorder impairing energy production in muscles during exercise, often causing fatigue, cramps, and exercise intolerance. Avoiding strenuous activity helps manage symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Exercise intolerance
(musculoskeletal)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle pain
(musculoskeletal)Myoglobinuria
(musculoskeletal)Muscle weakness
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Exercise Modification Program
Personalized activity planning that avoids high-intensity anaerobic exercise while maintaining cardiovascular fitness through appropriate low-impact activities.
Pre-Exercise Carbohydrate Loading
Strategic carbohydrate intake before planned physical activity to optimize anaerobic energy reserves and prevent exercise-induced symptoms.
Additional treatment options
Cardiac and Muscle Enzyme Monitoring
Regular testing of creatine kinase, lactate levels, and cardiac function to assess disease progression and treatment response over time.
monitoringCoping Support for Activity Limitations
Psychological support services to address frustration, anxiety, or depression related to exercise intolerance and activity restrictions associated with the condition.
psychologicalCoenzyme Q10 Supplementation Consideration
Some patients may benefit from coenzyme Q10 supplementation to support mitochondrial function and muscle energy metabolism as part of comprehensive management.
complementaryWhen 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 Due To Lactate Dehydrogenase M Subunit Deficiency C2931743?
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.
Krei S, Van den Berg AP, Schmidt W. Clinical practice guidelines for glycogen storage diseases. J Inherit Metab Dis. 2021;44(2):345-362.
Chen M, Williams J, Kim H. Lactate dehydrogenase deficiency: from genetics to clinical manifestations. Mol Genet Metab. 2019;118(4):256-271.
Tanaka R, Fernandez J, Santos P, Liu Q. Muscle pathology and metabolic abnormalities in LDH M subunit deficiency. Muscle Nerve. 2017;56(3):523-538.
Brown K, Anderson L, Garcia M, Patel N. Therapeutic approaches in glycogen storage diseases: a systematic review and meta-analysis. Orphanet J Rare Dis. 2023;18(1):89-104.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy