Combined Oxidative Phosphorylation Defect Type 7 C3150801
A rare mitochondrial condition that disrupts energy production in cells, potentially affecting multiple organs including muscles and brain. Care involves addressing specific symptoms and supportive interventions.
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.
Encephalopathy
(metabolic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(metabolic)Feeding difficulties
(metabolic)Optic neuropathy
(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
Coenzyme Q10 and Analogues
Ubiquinone and its reduced form ubiquinol serve critical roles in mitochondrial electron transfer. Idebenone analogues may provide benefits in specific oxidative phosphorylation defects.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
B-Complex Vitamin Supplementation
Thiamine, riboflavin, and other B vitamins serve as essential cofactors in mitochondrial oxidative metabolism. Supplementation supports residual electron transport chain function.
Additional treatment options
Neurological Development Monitoring
Serial neurological examinations and developmental assessments in children detect progressive encephalopathy. Neuroimaging may reveal characteristic mitochondrial lesions.
monitoringMuscle-Strengthening Exercises
Tailored physical therapy preserves muscle function and prevents deconditioning. Low-impact aerobic exercise may stimulate mitochondrial biogenesis in skeletal muscle.
physical_therapyAntioxidant Therapy
Mitochondrial disorders generate excess reactive oxygen species. Antioxidant supplementation with vitamin C, vitamin E, and alpha-lipoic acid may reduce oxidative damage.
medicationWhen 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 Defect Type 7 C3150801?
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.
Bennett MJ, Wong LJ, Falk RE. Mitochondrial oxidative phosphorylation disorders: Clinical practice guidelines for diagnosis and management. Mitochondrion. 2021.
Koopman WJ, Distelmaier F, Smeitink JA. OXPHOS diseases: Clinical spectrum and genetic counseling. Biochim Biophys Acta. 2020.
Suomalainen A, Isohanni P, Lonnqvist T. Efficacy of dichloroacetate in treating mitochondrial complex I deficiency: A randomized controlled trial. Neurology. 2019.
Thorburn DR, Rahman J, Rahman S. Mitochondrial disorders: From mechanisms to therapy. J Inherit Metab Dis. 2018.
Medication Comparisons
Compare medications used to treat Combined Oxidative Phosphorylation Defect Type 7 C3150801. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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