Mitochondrial Complex Iii Deficiency Nuclear Type 8 C4014440
A genetic disorder that interferes with the mitochondria's energy production system. Usually affects infants and may involve muscles and neurological tissues. Management 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
Leigh syndrome
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hepatic dysfunction
(gastrointestinal)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
Electrolyte and Metabolic Balance Tracking
Frequent laboratory monitoring of electrolytes, lactate-to-pyruvate ratio, and renal function to detect metabolic derangements and prevent complications.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Branched-Chain Amino Acid Supplementation
Targeted supplementation with BCAAs and other amino acids to support protein synthesis and provide alternative energy sources for affected tissues.
Additional treatment options
Dialysis or Filtration for Metabolic Crises
Acute renal replacement therapy during severe metabolic crises to remove accumulated toxins and restore acid-base balance when medical management fails.
procedureFeeding Tube Placement for Nutritional Support
Gastrostomy tube insertion when oral intake becomes insufficient due to dysphagia or increased caloric requirements from hypermetabolism.
surgicalIdebenone Analog Therapy
Administration of idebenone or similar quinone analogs designed to bypass complex III dysfunction and shuttle electrons directly to complex IV.
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 Iii Deficiency Nuclear Type 8 C4014440?
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy