Mitochondrial Complex I Deficiency Nuclear Type 30 C4746985
A rare inherited disorder affecting the mitochondria's energy-generating machinery. It usually begins in early life and can impact multiple body systems. Medical care is primarily supportive and multidisciplinary.
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
Cardiac arrhythmia
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Metabolic acidosis
(metabolic)Hepatopathy (liver dysfunction)
(gastrointestinal)Movement disorder (dystonia)
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Vitamin B Complex and Thiamine Therapy
High-dose B vitamins serve as cofactors for mitochondrial enzymes and may support residual complex I function. Thiamine pyrophosphate supplementation is particularly important.
Cardiac Function Surveillance
Regular echocardiograms and EKGs to detect hypertrophic cardiomyopathy or conduction abnormalities common in complex I deficiency. Early intervention prevents disease progression.
Additional treatment options
Alpha-Lipoic Acid Supplementation
Alpha-lipoic acid acts as an antioxidant and supports mitochondrial energy metabolism. It may help reduce oxidative stress in cells with impaired complex I function.
medicationCaloric Sufficiency with Complex Carbohydrates
Maintaining adequate caloric intake through complex carbohydrates prevents catabolism and muscle breakdown. Small, frequent meals help maintain energy levels throughout the day.
dietaryNeuropsychological Support Services
Cognitive assessment and therapeutic support for patients experiencing developmental delays, learning difficulties, or mood disorders associated with mitochondrial dysfunction.
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 30 C4746985?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Mitochondrial Complex I Deficiency Nuclear Type 30 C4746985. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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