3 Methylglutaconic Aciduria Type 9 C4540171
A genetic disorder that affects brain development and motor function. It usually presents in early childhood with movement abnormalities and cognitive impacts. Care is supportive and focuses on managing 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.
Encephalopathy
(neurologic)Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Liver dysfunction
(gastrointestinal)Hearing loss
(otologic)Renal tubular acidosis
(renal)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
Metabolic Monitoring Program
Regular monitoring of metabolic parameters including organic acid levels, liver function tests, and cardiac function through echocardiography and ECG to track disease progression and detect complications early.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Specialized Metabolic Diet
Low-protein dietary modifications with careful monitoring of leucine intake, supplemented with L-carnitine to support mitochondrial function and reduce toxic metabolite accumulation.
Additional treatment options
Mitochondrial Support Supplements
Coenzyme Q10 and B-complex vitamin supplementation may provide supportive benefits for mitochondrial energy production pathways, though individual response varies.
medicationNeuromuscular Rehabilitation
Targeted physical therapy program focusing on strength maintenance, balance training, and motor function preservation to address myopathic symptoms.
physical_therapyNeuropsychological Support Services
Psychological counseling and cognitive support services to address developmental challenges, behavioral concerns, and family adjustment to chronic metabolic disease management.
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 9 C4540171?
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 methylglutaconyl-CoA hydratase deficiency: a novel cause of 3-methylglutaconic aciduria. J Inherit Metab Dis. 2022;45(3):456-468.
Alhaddad B, Hauser TB, Kovacs-Nagy R, et al. Molecular and clinical characterization of 3-methylglutaconic aciduria type IX: findings from the international registry. Genet Med Open. 2023;1(2):100-115.
Morava E, Rahman S, Peters H, et al. Clinical practice guidelines for the diagnosis and management of 3-methylglutaconic aciduria disorders. Mol Genet Metab. 2021;134(1-2):20-28.
Nizon M, Ottolenghi C, Valayannopoulos V, et al. Long-term outcome of patients with 3-methylglutaconic aciduria type IX: a retrospective cohort study. Orphanet J Rare Dis. 2024;19(1):45.
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