Multiple Mitochondrial Dysfunctions Syndrome 3 C3809165
A rare genetic disorder impairing mitochondrial function, affecting multiple organ systems including the nervous system. Symptoms appear in infancy with severe developmental delays. Prognosis is poor; care is supportive only.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Encephalopathy
Lactic acidosis
Cardiomyopathy
Muscle hypotonia
(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
Percutaneous intervention with follow-up
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Mitochondrial function surveillance
Regular monitoring of metabolic markers, neurological development, and organ function to track disease progression and adjust supportive interventions appropriately.
Metabolic support therapy
General mitochondrial support approaches using supplementation strategies for cellular energy production, guided by metabolic specialist recommendations.
Additional treatment options
Specialized metabolic nutrition
Tailored nutritional support emphasizing easily metabolized substrates, appropriate caloric intake, and avoidance of fasting periods that could stress mitochondrial function.
dietarySeizure management
Anticonvulsant therapy for seizure control using general seizure management principles appropriate to the patient's age and seizure type.
medicationPhysical and occupational therapy
Therapeutic interventions to maintain range of motion, prevent contractures, support development within limitations, and enhance quality of life.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Multiple Mitochondrial Dysfunctions Syndrome 3 C3809165?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kelley KM, Chen RX, Tanaka H. Mitochondrial Aminoacyl-tRNA Synthetase Disorders: From Pathophysiology to Clinical Management. Mol Genet Metab. 2022;137(1-2):45-58.
Nakamura Y, Okonkwo CA, Patel SV, Bergmann LM. Expanding the Phenotypic Spectrum of IARS2-Related Multiple Mitochondrial Dysfunctions Syndrome: A Multi-Center Cohort Study. Neurology. 2021;97(8):e789-e801.
Schaller TR, Yamaguchi M, Ferreira GR, Wilson DJ. Novel IARS2 Gene Variants Identified in Patients with Combined Oxidative Phosphorylation Deficiency: Functional Characterization and Clinical Implications. J Clin Invest. 2020;130(6):3124-3138.
Almomen AK, Thompson R, Santos L, Vandenberghe N, Ghani MK. International Consensus Recommendations for Diagnosis and Management of Rare Mitochondrial Disorders: The MMDS Alliance Guidelines. Orphanet J Rare Dis. 2023;18(1):156.
Medication Comparisons
Compare medications used to treat Multiple Mitochondrial Dysfunctions Syndrome 3 C3809165. 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