Mitochondrial Dna Depletion Syndrome 8a C2749861
A rare genetic condition where cells lack sufficient mitochondrial DNA, impairing energy production. Symptoms typically appear in infancy. Care focuses on supportive measures.
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
Respiratory insufficiency requiring ventilation
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neonatal hypotonia (floppy infant)
(neurologic)Feeding difficulties due to poor suction
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Mitochondrial Disease-Specific Pharmacotherapy
Comprehensive mitochondrial support using Coenzyme Q10, L-carnitine, and B-vitamin supplementation to optimize mitochondrial respiratory chain function.
Intensive Motor Rehabilitation
Aggressive physical therapy program combining resistance training, gait training, and functional exercises to maintain motor abilities and prevent deterioration.
Additional treatment options
Ketogenic Diet Trial
Some mitochondrial disorders may benefit from ketogenic diet which provides alternative energy substrate through ketone bodies rather than glucose-dependent pathways.
dietaryMultidisciplinary Surveillance Program
Coordinated care involving neurology, cardiology, pulmonology, and nutrition with regular assessments to manage multisystem involvement.
monitoringNeuropsychological Support
Cognitive assessment and psychological support services to address developmental delays, behavioral challenges, and family coping needs associated with progressive disease.
psychologicalWhen 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 Dna Depletion Syndrome 8a C2749861?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy