Mitochondrial Complex 5 Atp Synthase Deficiency Nuclear Type 6 C5231461
A rare genetic disorder affecting the mitochondria's energy-producing machinery. It can involve multiple organs including muscles, heart, and brain. Treatment focuses on managing symptoms and supporting affected organs.
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
Encephalopathy
(neurological)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurological)Muscle weakness
(musculoskeletal)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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Mitochondrial Support Cocktail
Combination therapy including CoQ10, L-carnitine, B vitamins, and alpha-lipoic acid to support overall mitochondrial function and ATP production.
Cardiac and Metabolic Monitoring
Regular echocardiograms, metabolic panels, and exercise tolerance testing to assess disease progression and treatment response in affected organ systems.
Additional treatment options
High-Calorie Modified Diet
Increased caloric intake to compensate for inefficient ATP production and meet elevated metabolic demands of affected patients.
dietaryCardiac Device Implantation
Pacemaker or defibrillator placement for patients developing conduction abnormalities or arrhythmias secondary to mitochondrial cardiomyopathy.
procedureAcetyl-L-Carnitine Supplementation
Supports fatty acid transport into mitochondria and may improve neurological function in patients with associated encephalomyopathy.
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 5 Atp Synthase Deficiency Nuclear Type 6 C5231461?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Mitochondrial Complex 5 Atp Synthase Deficiency Nuclear Type 6 C5231461. 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