Mitochondrial Complex I Deficiency Nuclear Type 39 C5774258
A rare mitochondrial disorder that disrupts the body's energy metabolism at the cellular level. Symptoms usually appear in infancy or early childhood. Medical care is primarily supportive.
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.
Warning signs - seek immediate care
Elevated cerebrospinal fluid lactate
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Failure to thrive
(metabolic)Exercise intolerance
(metabolic)Peripheral neuropathy
(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
Coenzyme Q10 (CoQ10) Supplementation
CoQ10 serves as an electron carrier in the mitochondrial electron transport chain and may help improve cellular energy production in complex I deficiency. supplementation is typically initiated early and continued long-term.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Ketogenic Diet Therapy
A high-fat, low-carbohydrate ketogenic diet provides alternative energy sources through ketone body metabolism, potentially bypassing defective complex I. Requires careful monitoring and nutritional supervision.
Additional treatment options
Cardiac Function Monitoring
Regular echocardiograms and electrocardiograms to detect and monitor cardiac complications, which are common in mitochondrial disorders affecting complex I function.
monitoringFatigue Management Program
Structured physical therapy focusing on energy conservation techniques, graded exercise therapy, and pacing strategies to manage exercise intolerance while maintaining function.
physical_therapyL-Carnitine Supplementation
L-carnitine supports fatty acid transport into mitochondria and may help improve overall mitochondrial function. Often used as adjunctive therapy in mitochondrial disorders.
complementaryWhen 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 39 C5774258?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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