Megd H El Syndrome 3 Methylglutaconic Aciduria With Deafness Dystonia Hepatopathy Encephalopathy And Leigh Like Syndrome Cn381352
A rare mitochondrial disorder causing multiple system problems including hearing loss, movement disorders, liver disease, and brain dysfunction with progressive symptoms.
Key facts at a glance
- ICD-10
- E71.111
- 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
Encephalopathy
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dystonia
(movement)Sensorineural hearing loss
(ENT)Hepatomegaly
(hepatic)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
Anticonvulsant therapy for seizure control
Anticonvulsant medications are used to manage seizure activity commonly associated with MEGD-H syndrome. Selection of specific agents should be guided by seizure type and individual patient response.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hepatopathy monitoring and liver function surveillance
Regular monitoring of liver function tests and hepatic imaging to assess progression of hepatopathy. Early detection allows for timely supportive interventions.
Additional treatment options
Physical and occupational therapy for dystonia management
Specialized therapy programs focused on managing dystonia through positioning techniques, stretching exercises, and adaptive equipment to improve functional mobility and comfort.
physical_therapyMitochondrial support nutrition
Customized nutritional support emphasizing cofactor supplementation including CoQ10, B vitamins, and L-carnitine to support mitochondrial function. Diet should be energy-dense to meet metabolic demands.
dietaryAudiological intervention and hearing support
Comprehensive hearing evaluation followed by appropriate intervention which may include hearing aids or cochlear implant evaluation for sensorineural hearing loss associated with the condition.
procedureWhen 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 Megd H El Syndrome 3 Methylglutaconic Aciduria With Deafness Dystonia Hepatopathy Encephalopathy And Leigh Like Syndrome Cn381352?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy