Mitochondrial Complex I Deficiency Nuclear Type 25 C4748806
A genetic condition impairing mitochondrial energy production, which may affect various body systems. Organs requiring significant energy are typically most affected. 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
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurological)Peripheral neuropathy
(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
Growth and Nutritional Status Tracking
Regular monitoring of growth parameters, nutritional status, and metabolic markers in growing children and adults. Includes weight, height, head circumference, and laboratory studies.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Vitamin and Mineral Cocktail Therapy
Comprehensive supplementation including thiamine, riboflavin, folate, vitamin E, alpha-lipoic acid, and selenium as supportive therapy for mitochondrial function optimization.
Additional treatment options
Environmental Temperature Management
Avoidance of temperature extremes as mitochondrial dysfunction impairs thermoregulation. Includes avoiding hot baths, excessive sun exposure, and cold environments that could trigger metabolic crises.
lifestyleCreatine Monohydrate Supplementation
Creatine supplementation to support muscle energy reserves and improve exercise tolerance. May help reduce fatigue and improve strength in some mitochondrial disease patients.
complementaryFamily-Centered Care Planning
Psychosocial support for patients and families addressing the genetic implications, coping strategies, and family planning considerations for mitochondrial disorders.
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 25 C4748806?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy