Mitochondrial Complex I Deficiency Nuclear Type 28 C4748827
A rare genetic disorder impairing mitochondria's ability to produce energy. It typically affects children and can involve multiple organs. Treatment focuses on managing symptoms and supportive care.
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
Cardiomyopathy
Sensorineural hearing loss
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth failure
(metabolic)Exercise intolerance
(musculoskeletal)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
Branched-Chain Amino Acid Supplementation
BCAA supplementation may support mitochondrial protein synthesis and provide alternative energy substrates. Used as adjunctive therapy to improve muscle metabolism in complex I deficiency.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental Assessment Program
Regular neurological and developmental assessments to monitor for progressive encephalopathy, ataxia, or cognitive decline. Includes neuro-imaging and neuropsychological testing as indicated.
Additional treatment options
Alpha-Lipoic Acid Therapy
Alpha-lipoic acid acts as a mitochondrial antioxidant and electron carrier, potentially supporting complex I function. May help reduce reactive oxygen species that damage impaired mitochondria.
complementaryMitochondrial Myopathy Supportive Care
Pharmacological management of myopathic symptoms including muscle pain, weakness, and fatigue using agents that minimize mitochondrial burden. Treatment individualized based on symptom presentation.
medicationEnergy Conservation Strategies
Lifestyle modifications including pacing activities, scheduled rest periods, and environmental adaptations to prevent energy depletion and reduce metabolic stress on compromised mitochondria.
lifestyleWhen 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 28 C4748827?
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 28 C4748827. 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