Mitochondrial Complex I Deficiency Nuclear Type 7 C4748760
A genetic disorder affecting the mitochondria's energy-generating pathway. Early childhood onset is common, with potential multi-organ involvement. Treatment is supportive and addresses specific symptoms.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Exercise intolerance
(musculoskeletal)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Muscle weakness
(musculoskeletal)Lactic acidosis
(metabolic)Cardiomyopathy
(cardiovascular)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
Comprehensive Cardiac Monitoring
Regular echocardiograms, EKGs, and cardiac enzyme monitoring to detect and manage cardiac complications associated with mitochondrial complex I deficiency.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Coenzyme Q10 Supplementation
Oral CoQ10 supplementation to support mitochondrial electron transport chain function and improve cellular energy production.
Additional treatment options
Ketogenic Diet Therapy
Implementation of a medical ketogenic diet to provide alternative energy substrate through ketone body metabolism, bypassing defective complex I.
dietaryFatigue Management Program
Specialized physical therapy focusing on energy conservation techniques, gentle resistance training, and paced exercise to maintain function without exacerbating fatigue.
physical_therapyEnergy Conservation Strategies
Implementation of lifestyle modifications including scheduled rest periods, environmental adaptations, and activity pacing to prevent energy depletion.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Mitochondrial Complex I Deficiency Nuclear Type 7 C4748760?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy