3 Methylglutaconic Aciduria Type Viib C5676893
A rare genetic metabolic condition impacting mitochondria, similar to type VIIa. It causes neurological and developmental problems that require lifelong management. Treatment involves supportive therapies tailored to individual 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
Metabolic acidosis
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Failure to thrive
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Metabolic and Growth Surveillance
Comprehensive monitoring of metabolic parameters, growth parameters in children, and developmental milestones with regular laboratory assessment of organic acid levels and nutritional markers.
Protein-Restricted Nutritional Plan
Individually formulated low-protein diet with medical formula supplementation to meet caloric and nutritional needs while minimizing production of toxic metabolites.
Additional treatment options
Orthopedic Intervention
Surgical evaluation and intervention for skeletal abnormalities including joint contractures, scoliosis, or other musculoskeletal deformities that may develop with disease progression.
surgicalIntegrative Supportive Therapies
Complementary approaches including massage therapy, gentle yoga, and relaxation techniques to support overall well-being and manage musculoskeletal discomfort.
complementaryEnergy Conservation Strategies
Education and implementation of energy conservation techniques in daily activities, including pacing strategies, assistive devices, and environmental modifications to preserve function.
lifestyleWhen 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 Type Viib C5676893?
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.
Tucker EJ, Compton AG, Thorburn DR. Mitochondrial disorders: clinical features and diagnostic approaches. J Inherit Metab Dis. 2020.
Skladal D, Halliday J, Thorburn DR. Minimum guidelines for the diagnosis and management of organic acidemias. Mol Genet Metab. 2021.
Wortmann SB, Kluijtmans LA, Engelke UFH, et al. The 3-methylglutaconic aciduria disorders: expanding the phenotypic spectrum. Orphanet J Rare Dis. 2018.
van der Knoop MM, Wassink BK, van Spronsen FJ. Novel insights into organic acidurias: from pathophysiology to treatment. Curr Opin Neurol. 2022.
Medication Comparisons
Compare medications used to treat 3 Methylglutaconic Aciduria Type Viib C5676893. 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