Mitochondrial Complex I Deficiency Nuclear Type 24 C4748803
A genetic disorder affecting the mitochondria's ability to produce energy. Can involve muscles, nerves, and organs with high metabolic demands. Care focuses on symptom management.
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
Optic atrophy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurological)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
Anticonvulsant Therapy for Seizure Management
Pharmacological management of seizure activity when present, using mitochondrial-safe anticonvulsants that do not inhibit mitochondrial function. Levetiracetam and lamotrigine are often preferred choices.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Continuous Neurological Surveillance
Regular neurological monitoring including EEG studies, neuroimaging, and developmental assessments to detect and address neurological complications promptly.
Additional treatment options
Ketogenic Diet Consideration
In select cases, a ketogenic diet may provide alternative energy substrates for the brain. Requires careful evaluation and monitoring by metabolic specialists.
dietaryNeurodevelopmental Therapy
Early intervention physical and occupational therapy focusing on motor development, balance, and coordination. Essential for maximizing functional independence and preventing contractures.
physical_therapyOrthopedic Intervention When Required
Surgical correction of skeletal deformities including scoliosis, contractures, or foot abnormalities that may develop secondary to muscle weakness and movement difficulties.
surgicalWhen 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 Complex I Deficiency Nuclear Type 24 C4748803?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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