Mitochondrial Complex I Deficiency Nuclear Type 18 C4748790
A rare mitochondrial disorder involving dysfunction of the first protein complex in the cellular energy production pathway. It can affect multiple organ systems, particularly those with high energy demands. Management involves supportive care.
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
Severe headache
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Lactic acidosis
(metabolic)Ptosis
(metabolic)Renal tubulopathy
(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 and L-Carnitine Supplementation
Mitochondrial cocktail supplementation including CoQ10, L-carnitine, and B-vitamins to support electron transport chain function and improve cellular energy production.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac and Neurological Monitoring
Regular echocardiograms, EEGs, and developmental assessments to detect and manage cardiac arrhythmias, seizures, or neurodegeneration early.
Additional treatment options
Ketogenic Diet Therapy
High-fat, low-carbohydrate diet that may provide alternative energy substrates for mitochondrial dysfunction by producing ketone bodies.
dietaryAdaptive Physical Therapy
Structured exercise program designed to maintain muscle strength and function while avoiding overexertion that could worsen mitochondrial stress.
physical_therapyEnergy Conservation Strategies
Implementing pacing techniques, scheduled rest periods, and activity modifications to manage fatigue and prevent energy depletion crises.
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 18 C4748790?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy