Mitochondrial Dna Depletion Syndrome 8b Mngie Type C3150172
A genetic disorder causing severe gastrointestinal symptoms and neurological problems due to mitochondrial dysfunction. Leads to intestinal issues and nerve damage. Treatment manages complications.
Key facts at a glance
- ICD-10
- K76.9
- ICD-11
- DA00.0
- Body system
- gastrointestinal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Intestinal pseudo-obstruction
Severe abdominal pain
Gastrointestinal bleeding
Abdominal pain or nausea
(gastrointestinal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Chronic diarrhea
(gastrointestinal)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
Allogeneic Hematopoietic Stem Cell Transplantation
Stem cell transplantation can replace defective thymidine phosphorylase-expressing cells with healthy donor cells, potentially reducing toxic metabolite accumulation characteristic of MNGIE syndrome.
GI disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Supportive Pharmacological Management
Management of gastrointestinal symptoms, seizures, and other manifestations using appropriate medications tailored to symptom presentation.
Additional treatment options
Nutritional Support and Management
Enteral or parenteral nutrition to address severe gastrointestinal dysfunction and prevent malnutrition, which is common in MNGIE.
dietaryPhysical and Occupational Therapy
Structured therapy programs to maintain muscle strength, improve functional mobility, and address progressive neurological decline.
physical_therapyMultidisciplinary Monitoring Protocol
Regular assessment of neurological status, gastrointestinal function, hematological parameters, and disease progression through specialized mitochondrial disease clinics.
monitoringWhen 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 Dna Depletion Syndrome 8b Mngie Type C3150172?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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.
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