Mitochondrial Complex I Deficiency Nuclear Type 23 C4748799
A genetic condition that disrupts mitochondrial energy production, potentially affecting multiple organ systems. Tissues with high energy needs are often most involved. Treatment is 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
Lactic acidosis
Seizures
Respiratory failure
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurological)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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Baseline Assessment
Comprehensive initial evaluation including neurological examination, cardiac workup with echocardiogram, ophthalmologic assessment, and audiometric testing to establish baseline and identify organ involvement.
High-Calorie Modified Diet
Implementation of a high-calorie diet with complex carbohydrates and adequate protein intake to reduce metabolic stress. Frequent small meals may help maintain energy levels and prevent catabolism.
Additional treatment options
Acetyl-L-Carnitine Supplementation
Addition of acetyl-L-carnitine to support fatty acid oxidation and improve mitochondrial function. May help reduce fatigue and improve neurological outcomes in complex I deficiency.
complementaryEnergy Conservation Techniques
Education and training in energy conservation methods including pacing activities, scheduled rest periods, and using assistive devices to minimize fatigue while maintaining independence.
lifestyleCardiac Device Implantation When Indicated
Surgical intervention for cardiac manifestations including pacemaker or defibrillator placement if conduction abnormalities or cardiomyopathy develops as part of the mitochondrial disorder.
procedureWhen 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 23 C4748799?
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy