Fars2 Deficiency Cn381326
A rare mitochondrial disease caused by mutations affecting mitochondrial protein synthesis. It often involves neurological problems. Treatment is primarily supportive.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurologic)Spasticity
(neurologic)Movement disorder
(neurologic)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
Ketogenic Diet Therapy
Metabolic intervention using high-fat, low-carbohydrate nutrition to bypass defective mitochondrial oxidative phosphorylation. May improve energy production and reduce lactic acidosis in some patients with mitochondrial dysfunction.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Coenzyme Q10 Supplementation
Mitochondrial cofactor supplementation to support electron transport chain function and improve cellular energy production in patients with FARS2-related mitochondrial dysfunction.
Additional treatment options
Comprehensive Metabolic Monitoring
Regular assessment of lactate levels, amino acid profiles, and neurological function to track disease progression and treatment response in FARS2 deficiency.
monitoringEnergy Conservation Techniques
Adaptive strategies to manage fatigue and conserve energy during daily activities, including pacing techniques and environmental modifications.
lifestyleL-Carnitine Supplementation
Support for fatty acid oxidation and mitochondrial function through enhanced transport of fatty acids into mitochondria for energy production.
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 Fars2 Deficiency Cn381326?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Fars2 Deficiency Cn381326. 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 25, 2026. · Read our editorial policy