Leigh Syndrome Due To Mitochondrial Complex V Deficiency C1850600
A severe mitochondrial disease affecting energy metabolism, causing rapid neurological decline in infants. Affected children typically survive only months to a few years. Care is limited to symptom relief.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Encephalomyopathy
(neurologic)Ataxia
(neurologic)Dystonia
(neurologic)Hypotonia
(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
Coenzyme Q10 (CoQ10) and Mitochondrial Cofactor Supplementation
Supplementation with CoQ10 and other mitochondrial cofactors such as L-carnitine, B vitamins, and alpha-lipoic acid may support mitochondrial function and energy production. These supplements aim to compensate for the complex V deficiency.
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Multidisciplinary Monitoring and Supportive Care
Regular monitoring by a team including neurologists, metabolic specialists, and dietitians to track disease progression, manage symptoms, and provide supportive interventions as needed.
Additional treatment options
Ketogenic Diet Therapy
A ketogenic diet may provide an alternative energy source for neurons and reduce metabolic stress. This dietary approach requires careful supervision by metabolic specialists.
dietaryPhysical and Occupational Therapy
Therapeutic interventions to maintain motor function, prevent contractures, and support activities of daily living. Therapy focuses on preserving existing abilities and managing spasticity.
physical_therapyPsychological Support and Genetic Counseling
Comprehensive psychological support for patients and families dealing with a progressive, fatal condition. Genetic counseling for family planning and understanding inheritance patterns.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Leigh Syndrome Due To Mitochondrial Complex V Deficiency C1850600?
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.
Rahman J, Ng YS, Blakely EL, Alston CL, Guo X, Gorman G, et al. Clinical practice guidelines for mitochondrial disorders: Leigh syndrome and related disorders. Brain. 2023.
Thorburn DR, Rahman J, Rahman S. Mitochondrial complex V deficiency causing Leigh syndrome: genetics, clinical features and diagnosis. Nat Rev Neurol. 2021.
Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, et al. Molecular diagnosis of Leigh syndrome due to complex V deficiency: utility of whole exome sequencing. Ann Neurol. 2020.
Gerards M, Smeets HJ, van den Bosch BJ. Leigh syndrome: update on the genetic basis and therapeutic strategies. Lancet Neurol. 2022.
Medication Comparisons
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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