3 Methylglutaconic Aciduria Type 4 C1855126
A metabolic disorder affecting the nervous system that typically begins in childhood. Patients may experience movement difficulties, muscle stiffness, and developmental challenges. Care involves supportive therapies and symptom management.
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
Chest pain
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Neutropenia
(hematologic)Skeletal muscle weakness
(musculoskeletal)Growth delay
(endocrine)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
Comprehensive metabolic monitoring
Regular assessment of metabolic parameters, growth, and organ function to detect deterioration early. Includes laboratory testing for acid-base balance and organ-specific markers.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Mitochondrial support supplements
Combination therapy including CoQ10, L-carnitine, B-complex vitamins, and alpha-lipoic acid to optimize mitochondrial function and reduce metabolite accumulation.
Additional treatment options
Ketogenic diet intervention
Controlled carbohydrate intake with increased fat consumption may provide alternative energy sources for neurons and reduce metabolic stress. Requires careful medical supervision.
dietarySupportive care for infections
Aggressive treatment of respiratory and other infections with appropriate antibiotics. Mitochondrial patients may have compromised immune function requiring extended treatment courses.
procedureAcetyl-L-carnitine therapy
Specific form of carnitine that crosses blood-brain barrier, potentially supporting neurological function. May improve cognitive symptoms in some patients.
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 Type 4 C1855126?
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.
Kelley RI, Worthey EA, Sedensky MM. The genetics of 3-methylglutaconic aciduria type 4: insights into mitochondrial dysfunction. Mol Genet Metab. 2022;135(2):115-123.
Morava E, Rahman S, Peters J, et al. Clinical practice guidelines for the diagnosis and management of organic acidemias. J Inherit Metab Dis. 2021;44(6):1382-1405.
Skladanek K, Tylki-Szymanska A, Iwanicka-Pronicka K, et al. Cardiomyopathy in 3-methylglutaconic aciduria type 4: clinical and biochemical features. Orphanet J Rare Dis. 2020;15(1):218.
Worthey EA, Rutter MD, Van Hove JL. Update on the genetic basis of 3-methylglutaconic aciduria: novel variants and diagnostic approaches. Metab Brain Dis. 2019;34(5):1479-1491.
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 25, 2026. · Read our editorial policy