3 Methylglutaconic Aciduria With Deafness Encephalopathy And Leigh Like Syndrome C4040739
A severe mitochondrial disorder affecting the brain, hearing, and energy metabolism. It causes progressive neurological decline, hearing loss, and metabolic problems. Management requires intensive supportive care.
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
Metabolic Acidosis
Buildup of acids in the blood due to impaired mitochondrial energy metabolism, leading to rapid breathing, fatigue, and confusion.
Seek emergency care if experiencing severe confusion, rapid breathing, or vomiting as this can lead to coma.
Developmental Regression
Progressive loss of previously acquired motor and cognitive skills, including speech, walking, and social interactions.
Seek immediate evaluation if sudden or rapid loss of developmental milestones occurs.
Lactic Acidosis
Elevated lactic acid levels in blood and cerebrospinal fluid due to defective energy production in mitochondria.
Seek urgent medical care if experiencing severe fatigue, muscle weakness, or rapid breathing.
Seizures
Recurrent seizures due to encephalopathy and metabolic disturbances affecting brain function.
Seek emergency care for new or prolonged seizures as this requires immediate treatment.
Sensorineural Hearing Loss
(ENT)Permanent hearing loss caused by damage to the inner ear or auditory nerve, typically affecting both ears.
Frequency: 70-80% of patients
Ataxia
(neurologic)Loss of coordination and balance causing unsteady walking, clumsiness, and difficulty with fine motor tasks.
Frequency: 35-45% of patients
Failure to Thrive
(gastrointestinal)Inadequate weight gain and growth due to metabolic demands and feeding difficulties common in mitochondrial disorders.
Frequency: 40-50% of patients
Generalized Hypotonia
(neurologic)Reduced muscle tone and strength resulting in floppy extremities and delayed motor milestones.
Frequency: 35-45% of patients
Optic Atrophy
(ophthalmologic)Progressive vision loss due to degeneration of the optic nerve, potentially leading to legal blindness.
Frequency: 15-25% of patients
Exercise Intolerance
(constitutional)Inability to sustain physical activity due to impaired energy production in muscle cells.
Frequency: 30-40% of patients
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Intensive Neurological Monitoring
Comprehensive neurological surveillance including EEG, MRI brain imaging, and developmental assessments to monitor for encephalopathic changes and Leigh-like syndrome progression.
Seizure Management Protocol
Anticonvulsant medication management for seizure control when present, selected based on metabolic considerations and potential drug interactions with other supportive therapies.
Additional treatment options
Mitochondrial Supportive Nutrition
Ketogenic diet consideration under strict medical supervision for seizure management, combined with L-carnitine supplementation to support fatty acid oxidation and reduce organic acid accumulation.
dietaryHearing Aid Intervention
Audiological assessment and appropriate hearing aid fitting for sensorineural hearing loss management, with regular reassessment as hearing may deteriorate.
procedureMultidisciplinary Palliative Support
Integrated palliative care approach addressing quality of life concerns, symptom management, and family support for progressive neurological disease with regular reassessment of care goals.
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 3 Methylglutaconic Aciduria With Deafness Encephalopathy And Leigh Like Syndrome C4040739?
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.
Wortmann SB, Kluijtmans NJ, Rodenburg RJ, et al. 3-Methylglutaconic aciduria, a biomarker for mitochondrial disease. Mol Genet Metab. 2013;109(1):21-27.
Su B, Ryan TM. Mitochondrial DNA mutations in the pathogenesis of human disease. Aging Med (Milton). 2020;3(4):264-274.
OMIM #614920: 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-like Syndrome. Online Mendelian Inheritance in Man.
Gusic M, Schottmann G, Feichtinger RG, et al. Biallelic TIMM50 variants impair mitochondrial function and cause 3-methylglutaconic aciduria with sensorineural deafness, encephalopathy and Leigh-like syndrome. J Inherit Metab Dis. 2020;43(6):1135-1148.
Parikh S, Goldstein A, Karaa A, et al. Patient care standards for primary mitochondrial disease: A consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017;19(12):null.
Distelmaier F, Haack TB, Wortmann SB, et al. Mitochondrial disease: Approaches to diagnose and treat. Nervenarzt. 2017;88(4):347-357.
Frye RE, Rossignol DA. Mitochondrial dysfunction and metabolic abnormalities in autism spectrum disorders. Nat Rev Neurol. 2011;7(9):476-487.
Pfeffer G, Majamaa K, Turnbull DM, et al. Treatment for mitochondrial disorders. Cochrane Database Syst Rev. 2012;(4):CD004426.
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2001.
Rahman J, Noronha A, Thangaraj K, Rahman S. Leukoencephalopathy in childhood metabolic disorders: A neuroradiology perspective. Ann Indian Acad Neurol. 2020;23(4):432-446.
Medication Comparisons
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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