Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b Related C2749862
A rare mitochondrial disorder affecting multiple organ systems, including the nervous system and digestive tract. It is severe and progressive, with treatment focused on managing symptoms.
Key facts at a glance
- ICD-10
- R69
- ICD-11
- MA00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Gastrointestinal dysmotility
(metabolic)Peripheral neuropathy
(metabolic)Leukoencephalopathy
(metabolic)Ptosis
(metabolic)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
Comprehensive disease monitoring
Regular multidisciplinary monitoring including neurological assessments, gastrointestinal evaluation, and mitochondrial function tests to track disease progression and adjust interventions.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Nutritional support therapy
Specialized nutritional interventions including high-calorie supplements and management of malabsorption issues common in mitochondrial disorders to prevent cachexia.
Additional treatment options
Muscle strength preservation program
Targeted physical therapy focusing on gentle exercises to maintain muscle function and prevent contractures while avoiding overexertion that could worsen mitochondrial dysfunction.
physical_therapySymptomatic pharmacological management
Medications to address specific symptoms such as antiemetics for nausea, laxatives for constipation, and supplements to support mitochondrial function.
medicationCoenzyme Q10 and supplement therapy
Adjunctive supplementation with CoQ10, L-carnitine, and B vitamins to potentially support mitochondrial electron transport chain function.
complementaryWhen 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 Neurogastrointestinal Encephalopathy Syndrome Rrm2b Related C2749862?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy