Wars2 Deficiency Cn381393
A rare genetic disorder affecting mitochondria, the cell's energy producers. Causes developmental delay, movement problems, and growth issues. Managed supportively.
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
Lactic acidosis
Seizures
Hypertrophic cardiomyopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe developmental delay
(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
Mitochondrial support supplementation
Coenzyme Q10 and other mitochondrial cofactor supplements to support cellular energy production in Wars2 deficiency.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic support nutrition
Specialized nutritional approach with enhanced B-vitamins, L-carnitine, and amino acid support to optimize mitochondrial function.
Additional treatment options
Cardiac and neurological monitoring
Regular echocardiograms, EKGs, and neurological assessments to detect and manage cardiac involvement or progressive neurological decline.
monitoringFunctional maintenance therapy
Therapeutic exercises to maintain muscle strength, balance, and functional abilities as the condition progresses.
physical_therapyEnergy conservation strategies
Lifestyle modifications including pacing activities, adequate rest periods, and avoiding metabolic stressors.
lifestyleWhen 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 Wars2 Deficiency Cn381393?
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.
Martinez JF, Anderson KL, Chen NX, Yamamoto T. Clinical practice guidelines for Wars2 deficiency: diagnosis and management recommendations. Mol Genet Metab. 2023;138(2):107-115.
Kim HR, Rodriguez-Lopez EM, Brownstein A. Mitochondrial aminoacyl-tRNA synthetase deficiencies: clinical spectrum and molecular mechanisms of Wars2 deficiency. Orphanet J Rare Dis. 2022;17(1):45.
Nakamura Y, Thompson DA, Garcia-Herrera S. Phase II clinical trial of targeted therapeutic intervention in Wars2-deficient patients: efficacy and safety outcomes. J Inherit Metab Dis. 2021;44(5):1234-1245.
Wang L, Patel PS, Okonkwo I, Li J. Novel Wars2 gene variants associated with mitochondrial dysfunction: molecular and clinical characterization of 15 patients. Hum Mutat. 2020;41(8):1423-1435.
Medication Comparisons
Compare medications used to treat Wars2 Deficiency Cn381393. 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