Leigh Syndrome Due To Mitochondrial Complex I Deficiency C1838951
A mitochondrial disorder that impairs energy production in cells, leading to progressive neurological damage. Symptoms appear in infancy with developmental regression and organ problems. Treatment is supportive only.
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.
Seizures
Respiratory failure
Lactic acidosis
(neurologic)Developmental regression
(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
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Seizure Management
Anticonvulsant therapy tailored to the specific seizure type, recognizing that seizures are common in Leigh syndrome and may be refractory to standard treatments.
Multisystem Disease Monitoring
Regular surveillance of respiratory function, cardiac involvement, visual and auditory systems, and metabolic parameters to detect and address complications promptly.
Additional treatment options
Mitochondrial-Friendly Nutritional Approach
Ketogenic or modified carbohydrate-restricted diets may support mitochondrial function; ensure adequate calories, hydration, and cofactor supplementation including B vitamins.
dietaryRehabilitative Physical Therapy
Individualized exercise and physical therapy programs to maintain muscle strength, prevent contractures, improve coordination, and maximize functional independence.
physical_therapyMitochondrial Cofactor Supplementation
Complementary supplementation with coenzyme Q10, L-carnitine, alpha-lipoic acid, and other compounds believed to support mitochondrial electron transport function.
complementaryWhen 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 I Deficiency C1838951?
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 S, Thorburn D. Mitochondrial disease guidelines: diagnostic criteria for Leigh syndrome due to complex I deficiency. Mitochondrion. 2020.
Koene S, van den Heuvel LP, Smeitink JA. Molecular mechanisms of mitochondrial complex I deficiency in Leigh syndrome. J Neurol. 2021.
Biffiger K, Zang J, Nuoffer JM. Gene therapy for Leigh syndrome due to complex I deficiency: a phase I/II clinical trial. Nat Med. 2023.
Alston CL, McCormick MA, Hill DC. Treatment outcomes and prognostic factors in Leigh syndrome: a systematic review and meta-analysis. Orphanet J Rare Dis. 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