Mitochondrial Complex I Deficiency Nuclear Type 8 C4748766
A mitochondrial disease that impairs the body's ability to convert food into usable energy. It typically begins in childhood and affects multiple systems. Medical care is mainly 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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Generalized fatigue
(musculoskeletal)Muscle weakness
(musculoskeletal)Metabolic acidosis
(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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological Development Surveillance
Regular developmental assessments, brain imaging, and EEG monitoring to track neurological progression and detect seizures early.
L-Carnitine Supplementation
Administration of L-carnitine to support fatty acid oxidation and mitochondrial energy metabolism, potentially improving muscle function and reducing metabolic stress.
Additional treatment options
Mitochondrial Supportive Diet
Nutritional approach emphasizing antioxidant-rich foods, B-vitamin supplementation, and avoidance of mitochondrial toxins to support cellular energy production.
dietarySeizure Management Protocol
Implementation of EEG-guided seizure management with appropriate antiepileptic medications selected to minimize mitochondrial toxicity.
procedureNeurodevelopmental Support Services
Access to developmental pediatric specialists, occupational therapy, and educational support services to address cognitive and motor delays.
psychologicalWhen 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 8 C4748766?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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