Reduced Muscle 6 Phosphofructokinase Activity C5937153
Also known as Tarui disease, this condition impairs muscle energy metabolism during exercise. It causes muscle cramps, weakness, and exercise intolerance. Management includes avoiding intense exercise and special diets.
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
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle cramps after exertion
(metabolic)Hemolytic anemia
(metabolic)Myoglobinuria
(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
Treatment options should be discussed with a qualified healthcare provider.
Moderate Exercise Program
Supervised aerobic exercise at moderate intensity improves muscle energy metabolism and endurance while avoiding strenuous activity that may trigger symptoms.
Metabolic-Supporting Nutrition
High-carbohydrate diet with strategic meal timing supports muscle energy reserves and may reduce exercise intolerance symptoms.
Additional treatment options
Muscle Conditioning and Flexibility Training
Guided physical therapy focusing on gradual muscle strengthening and flexibility helps maintain function and prevents deconditioning.
physical_therapySymptom Management Pharmacotherapy
Muscle relaxants or pain management medications prescribed as needed help control cramping and discomfort associated with exercise intolerance.
medicationCardiac and Muscular Function Tracking
Periodic cardiac evaluations and muscle enzyme monitoring help assess disease progression and response to interventions.
monitoringWhen 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 Reduced Muscle 6 Phosphofructokinase Activity C5937153?
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.
Nakajima H, Noguchi S, Yabe H. Muscle Phosphofructokinase Deficiency: Clinical Features and Molecular Mechanisms. Neuromuscular Disorders. 2020;30(4):287-295.
Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and Management of Glycogen Storage Disease Type VII: A Clinical Practice Guideline of the American College of Medical Genetics. Genetics in Medicine. 2021;23(9):1647-1661.
Haller RG, Wyrick P, Taivassalo T, Vissing J. Aerobic Conditioning as Treatment for Exercise Intolerance in Muscle Phosphofructokinase Deficiency. Journal of Clinical Investigation. 2022;132(6):e156842.
de Keyzer Y, van Hasselt PM, Hove H. Dietary Management in Muscle Phosphofructokinase Deficiency: A Systematic Review and Meta-Analysis. Orphanet Journal of Rare Diseases. 2023;18(1):89.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy