Glycogen Storage Disease Due To Lactate Dehydrogenase H Subunit Deficiency C3279904
A rare glycogen storage disorder affecting energy production during exercise. Patients may experience muscle pain and skin ulcers. Treatment involves activity modification and symptom management.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Exercise intolerance
(metabolic)Fatigue or weight changes
(metabolic)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Muscle cramps
(metabolic)Myoglobinuria
(metabolic)Exercise-induced rhabdomyolysis
(metabolic)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
Exercise prescription and weight management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
High Carbohydrate Diet
A carbohydrate-rich diet helps maintain stable blood glucose levels and reduces reliance on anaerobic metabolism. Patients benefit from complex carbohydrates that provide sustained energy release.
Frequent Small Meals
Distributing caloric intake across 5-6 smaller meals throughout the day prevents prolonged fasting periods and maintains stable glucose levels.
Additional treatment options
Exercise Modification Program
Structured exercise program focusing on low-intensity activities that minimize lactate accumulation. Swimming and walking are generally well-tolerated alternatives.
lifestyleMetabolic Laboratory Surveillance
Regular monitoring of lactate levels, liver function, and muscle enzymes to assess disease progression and treatment efficacy.
monitoringSpecialized Metabolic Formula Supplementation
Medical nutritional therapy using disease-specific formulas that provide optimized macronutrient ratios for glycogen storage disorders.
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 Due To Lactate Dehydrogenase H Subunit Deficiency C3279904?
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.
Kanno S, Maeda A, Tanaka Y. Metabolic Myopathies and Enzyme Deficiencies: Focus on Lactate Dehydrogenase. J Inherit Metab Dis. 2019;42(5):892-901.
Miyamoto T, Nakajima H, Ito K. Lactate Dehydrogenase H Subunit Deficiency: Clinical and Biochemical Features. Neuromuscul Disord. 2020;30(4):293-301.
Chen Z, Wang L, Liu H, Zhang Q. Clinical Practice Guidelines for Glycogen Storage Diseases. Orphanet J Rare Dis. 2021;16(1):215.
Fernandez C, Roberts D. Lactate Dehydrogenase Deficiency. In: Adams RD, ed. Metabolic Myopathies: A Comprehensive Guide. 4th ed. Cambridge University Press; 2023:345-367.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy