Mitochondrial Complex I Deficiency Nuclear Type 31 C4748838
A genetic mitochondrial disease linked to nuclear gene mutations affecting energy production. It can cause developmental delays, neurological issues, and organ involvement. Management involves supportive care tailored to symptoms.
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
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(neurologic)Cardiomyopathy
(cardiovascular)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Idebenone Therapy
Idebenone is a CoQ10 analog that may improve electron transfer in the respiratory chain. Used as supportive therapy in complex I deficiency to potentially reduce neurological progression.
Cardiac Device Implantation
Pacemaker or defibrillator placement for patients developing cardiac conduction disorders or arrhythmias secondary to mitochondrial dysfunction. Requires cardiology and genetics coordination.
Additional treatment options
Energy Conservation Techniques
Teaching patients pacing strategies, activity modification, and energy conservation methods to prevent post-exertional malaise and maintain functional capacity.
lifestyleAcetyl-L-Carnitine Supplementation
Acetyl-L-carnitine crosses the blood-brain barrier and may support neuronal mitochondrial function. Often combined with other mitochondrial-supportive therapies.
complementaryCorrective Surgery for Skeletal Complications
Surgical intervention for scoliosis, contractures, or other musculoskeletal deformities that develop secondary to muscle weakness and hypotonia in complex I deficiency.
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 31 C4748838?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Mitochondrial Complex I Deficiency Nuclear Type 31 C4748838. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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