Mitochondrial Dna Depletion Syndrome 14a Encephalomyopathic Type C6065952
A severe genetic disorder causing progressive weakness and brain dysfunction due to depleted mitochondrial DNA, typically beginning in infancy. Care is supportive, addressing breathing and nutritional needs.
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
Global developmental delay
(neurologic)Elevated lactate (lactic acidosis)
(neurologic)Sensorineural hearing loss
(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
Intensive Multisystem Monitoring
Given the severe nature of mtDNA depletion syndrome, comprehensive monitoring of cardiac, hepatic, neurologic, and muscular function is essential for early intervention.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Mitochondrial Rescue Pharmacotherapy
Combination therapy with Coenzyme Q10, L-carnitine, and B-vitamins attempts to support remaining mitochondrial function and reduce disease progression.
Additional treatment options
Feeding Support and Tube Placement
Many patients with this severe mtDNA depletion syndrome develop feeding difficulties and may require gastrostomy tube placement to maintain adequate nutrition.
procedureCaloric and Protein Support
High-calorie, high-protein nutritional support helps maintain weight and muscle mass, counteracting the catabolic stress of mitochondrial dysfunction.
dietaryFamily and Caregiver Support Services
Given the severe prognosis, psychological support for families and caregivers is essential, including counseling, support groups, and palliative care consultation when appropriate.
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 14a Encephalomyopathic Type C6065952?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy