Cytochrome C Oxidase I Deficiency C4016602
A rare mitochondrial disorder impairing energy production in cells, potentially affecting muscles, heart, and brain. It can cause developmental delay and organ dysfunction. Treatment is primarily 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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hypotonia
(metabolic)Lactic acidosis
(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
Mitochondrial Supportive Therapy
Coenzyme Q10 and L-carnitine supplementation may support mitochondrial function and cellular energy production in cytochrome c oxidase deficiency.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic Diet Modification
Customized nutritional planning emphasizing complex carbohydrates and appropriate protein intake while avoiding fasting, which can exacerbate mitochondrial dysfunction.
When 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 Cytochrome C Oxidase I Deficiency C4016602?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy