Mitochondrial Complex I Deficiency Nuclear Type 17 C4748786
A genetic disorder affecting the first complex of the mitochondria, impairing the cell's ability to generate energy. It may cause neurological, muscular, or metabolic problems. Treatment is supportive and individualized.
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
Developmental delay
(metabolic)Muscle weakness
(metabolic)Cardiomyopathy
(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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hepatic function surveillance
Regular liver function tests and imaging to monitor for hepatomegaly, hepatic dysfunction, or progression of liver disease in mitochondrial complex I deficiency.
Hepatic-protective nutrition
Nutritional support with adequate calories, protein, and micronutrients while avoiding hepatotoxic substances and managing fat metabolism.
Additional treatment options
Mitochondrial-targeted antioxidant therapy
General antioxidant supplementation to reduce oxidative stress on hepatic mitochondria and support cellular energy metabolism.
medicationAlcohol and toxin avoidance
Strict elimination of alcohol, acetaminophen, and other hepatotoxic substances that can compound mitochondrial liver dysfunction.
lifestyleSpecialized hepatology referral
Gastroenterology/hepatology consultation for advanced hepatic assessment, biopsy consideration, and management of complications such as portal hypertension.
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 17 C4748786?
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