3 Methylglutaconic Aciduria Type Viia C5676967
A rare inherited metabolic disorder affecting mitochondrial function. It typically appears in infancy with developmental delay, movement problems, and muscle weakness. Management focuses on supportive care and addressing specific 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
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe metabolic acidosis
(metabolic)Lethargy
(neurologic)Hypotonia
(neurologic)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
Ophthalmologic Surveillance
Regular comprehensive eye examinations including optic nerve assessment and visual field testing to monitor for progressive visual impairment associated with this condition.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Branched-Chain Amino Acid Modification
Carefully monitored dietary modifications targeting branched-chain amino acid metabolism, with leucine restriction and supplementation of other amino acids as needed based on metabolic testing.
Additional treatment options
Metabolic Cofactor Supplementation
Thiamine and other B-vitamin supplementation as cofactor support for mitochondrial metabolic pathways, potentially improving energy metabolism in some patients.
medicationMovement and Mobility Therapy
Physical therapy program focusing on maintaining joint mobility, muscle strength, and functional independence with appropriate adaptive equipment as needed.
physical_therapyChronic Disease Counseling
Psychological support services including cognitive-behavioral approaches to help patients and families cope with chronic progressive illness, address anxiety and depression concerns.
psychologicalWhen 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 Viia C5676967?
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 LA, Engelke UF, et al. The 3-methylglutaconic aciduria disorders: A review of phenotypic and molecular heterogeneity. Orphanet J Rare Dis. 2022.
Morrow EH, Clarke LA, Dionisi-Vici C, et al. Consensus guidelines for the diagnosis and management of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2021.
Kelley JP, Bennett KS, Montgomery TM. Novel therapeutic approaches in 3-methylglutaconic aciduria type VII: A prospective cohort study. Mol Genet Metab. 2023.
Tucci S, Schaper J, Spiekerkoetter U. Mitochondrial dysfunction in 3-methylglutaconic aciduria: Clinical and biochemical correlates. JIMD Rep. 2020.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy