Mitochondrial Complex I Deficiency Nuclear Type 9 C4748767
A genetic disorder affecting the mitochondria's energy-producing machinery. It primarily affects children and can involve muscles, brain, and heart. Treatment focuses on supportive care and metabolic support.
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
Optic atrophy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Reduced endurance
(musculoskeletal)Hearing loss
(ENT)Growth retardation
(endocrine)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Laboratory Surveillance
Regular monitoring of lactate, pyruvate, amino acids, and acylcarnitine profiles to assess metabolic status and treatment response.
B-Vitamin Complex Therapy
High-dose B-vitamin supplementation including thiamine, riboflavin, and biotin to support mitochondrial enzyme function and electron transport.
Additional treatment options
Branched-Chain Amino Acid Modification
Dietary management with careful attention to protein intake and branched-chain amino acid ratios to reduce metabolic stress on affected mitochondria.
dietaryFeeding Tube Placement
Gastrostomy tube placement for patients with significant feeding difficulties or failure to thrive to ensure adequate caloric and nutritional intake.
surgicalAcetyl-L-Carnitine Supplementation
Supplementation with acetyl-L-carnitine to support mitochondrial membrane integrity and improve neuronal and muscular energy metabolism.
complementaryWhen 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 9 C4748767?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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