Combined Oxidative Phosphorylation Deficiency 60 C6012722
A rare genetic condition affecting the mitochondria, the energy centers of cells, which can impact multiple organ systems. Treatment involves managing specific symptoms and providing supportive care.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Lactic acidosis
(metabolic)Encephalopathy
(metabolic)Growth retardation
(metabolic)Cardiac arrhythmia
(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 Support Therapy
Combination therapy using Coenzyme Q10, L-carnitine, alpha-lipoic acid, and B-vitamins to support mitochondrial function and improve energy metabolism in cells with combined oxidative phosphorylation deficiency.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Modified Ketogenic Nutritional Protocol
Implementation of a carefully formulated ketogenic diet to provide alternative energy sources through ketone metabolism, potentially reducing reliance on defective oxidative phosphorylation pathways.
Additional treatment options
Comprehensive Multidisciplinary Surveillance
Regular assessment of cardiac function, neuromuscular status, endocrine function, and growth parameters by a team of specialists to manage the multisystem manifestations of oxidative phosphorylation deficiency.
monitoringAcetyl-L-Carnitine Supplementation
Supplementation with acetyl-L-carnitine to support fatty acid transport into mitochondria and enhance neuronal energy metabolism, potentially improving neurological symptoms associated with the deficiency.
complementaryNeuropsychological Support Services
Cognitive and psychological support including neuropsychological testing, counseling, and educational interventions to address developmental delays, cognitive impairment, or behavioral changes associated with mitochondrial disease.
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 Combined Oxidative Phosphorylation Deficiency 60 C6012722?
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 20, 2026. · Read our editorial policy