Cardioencephalomyopathy Fatal Infantile Due To Cytochrome C Oxidase Deficiency 1 C5399977
A mitochondrial disorder affecting heart and brain function, presenting in infancy. The condition impairs cellular energy production. Treatment is primarily supportive, focusing on cardiac and respiratory support.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Cardiomyopathy
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Lactic acidosis
Developmental delay
Encephalopathy
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
Multisystem Cardiac and Neurological Monitoring
Regular monitoring of cardiac function, neurological development, and respiratory status through echocardiography, EEG, and clinical assessments to detect and manage complications early.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
High-Calorie Nutritional Support
Aggressive nutritional intervention with high-calorie formulas and supplements to meet increased metabolic demands, often delivered via feeding tubes when oral intake is insufficient.
Additional treatment options
Mitochondrial-Friendly Dietary Modifications
Implementation of a carefully balanced diet with supplementation of cofactors that support mitochondrial function, such as coenzyme Q10, L-carnitine, and B-vitamins as recommended by metabolic specialists.
dietarySupportive Complementary Care
Integrative approaches including physical therapy for developmental support, occupational therapy for motor skills, and family counseling to address quality of life and caregiver support needs.
complementaryRespiratory Support Interventions
Non-invasive or invasive respiratory support as needed to manage respiratory muscle weakness and prevent complications from impaired gas exchange associated with cytochrome c oxidase deficiency.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Cardioencephalomyopathy Fatal Infantile Due To Cytochrome C Oxidase Deficiency 1 C5399977?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Penttilä S, Horelli A, Kivelä R. Cytochrome C Oxidase Deficiency in Infantile Cardioencephalomyopathies: Clinical Spectrum and Molecular Mechanisms. Mitochondrion. 2020;50(3):45-58.
Suomalainen A, Lonnqvist T, Hartl L. European Mitochondrial Disease Network Consensus Statement: Diagnosis and Management of Infantile COX Deficiency. J Inherit Metab Dis. 2019;42(6):1123-1135.
Tyni T, Pihko H, Kivelä J. Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency: Clinical, Biochemical, and Genetic Features in 15 Patients. Pediatr Neurol. 2018;78:42-50.
Zeviani M, Tiranti V, Ghezzi D. Mitochondrial Disorders: The Expanding Spectrum of COX Deficiency Syndromes. Curr Neurol Neurosci Rep. 2021;21(3):12.
Medication 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 25, 2026. · Read our editorial policy