3 Methylglutaconic Aciduria C3696376
A metabolic disorder causing abnormal acid buildup affecting multiple body systems including the brain. Severity varies widely among affected individuals. Care focuses on symptom management and metabolic support.
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 metabolism, causing fatigue, rapid breathing, and confusion.
Seek immediate care if experiencing severe confusion, difficulty breathing, or loss of consciousness.
Cardiomyopathy
Weakened heart muscle that can lead to heart failure, causing shortness of breath and fatigue.
Seek emergency care for chest pain, severe shortness of breath, or fainting.
Hypoglycemia
Low blood sugar levels causing shakiness, sweating, confusion, and irritability.
Seek immediate care if experiencing severe confusion, seizures, or loss of consciousness.
Seizures
Uncontrolled electrical activity in the brain causing convulsions or loss of consciousness.
Seek emergency care for any new-onset seizure or seizure lasting more than 5 minutes.
Failure to Thrive
(constitutional)Inability to gain weight and grow at a normal rate despite adequate nutrition.
Frequency: 75-85% of patients
Developmental Delay
(neurologic)Delayed attainment of milestones such as walking, talking, and motor skills.
Frequency: 60-70% of patients
Muscle Hypotonia
(neurologic)Reduced muscle tone causing floppy movements and poor head control in infants.
Frequency: 55-65% of patients
Recurrent Infections
(constitutional)Frequent bacterial and viral infections due to immune system dysfunction.
Frequency: 40-50% of patients
Hepatomegaly
(gastrointestinal)Enlarged liver causing abdominal fullness and discomfort.
Frequency: 20-30% of patients
Exercise Intolerance
(constitutional)Inability to sustain physical activity due to rapid fatigue and muscle weakness.
Frequency: 20-30% 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
Comprehensive cardiac evaluation
Baseline and serial cardiac assessments including echocardiography and ECG to detect cardiomyopathy or arrhythmias, which are common complications requiring early intervention.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Coenzyme Q10 supplementation
CoQ10 therapy to support mitochondrial electron transport chain function and potentially improve energy production in cells with compromised mitochondrial metabolism.
Additional treatment options
L-carnitine supplementation
Carnitine replacement to support fatty acid oxidation and mitochondrial function, helping to reduce accumulation of toxic organic acid metabolites.
medicationNeurological and developmental assessments
Regular neurodevelopmental evaluations to identify and address delays, hypotonia, or cognitive challenges early, allowing for timely therapeutic interventions.
procedureEnergy conservation and pacing strategies
Adaptive techniques to manage fatigue and conserve energy, including scheduled rest periods, assistive devices, and activity modifications to prevent overexertion.
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 C3696376?
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.
Schiller J, Hofmann M, Spieker J, et al. Mitochondrial disorders including 3-methylglutaconic aciduria: a review of clinical features, genetics, and pathophysiology. J Inherit Metab Dis. 2021;44(3):567-589.
American College of Medical Genetics and Genomics. Newborn screening ACT sheets and algorithms: 3-methylglutaconic aciduria. ACMG Practice Guidelines. 2020.
Wortmann SB, Duran M, Everson L, et al. 3-Methylglutaconic aciduria: a heterogeneous group of disorders of mitochondrial function. Orphanet J Rare Dis. 2022;17(1):45.
Cohen L, Raza R, Gahl WA. Natural history and treatment of 3-methylglutaconic aciduria type I: data from the NIH cohort. Mol Genet Metab. 2019;126(2):S46.
European Research Network for Rare Mitochondrial Disorders. Consensus clinical management guidelines for mitochondrial diseases including 3-methylglutaconic aciduria. J Neurol Sci. 2020;414:116886.
Fermann DF, Valayannopoulos V. 3-Methylglutaconic Aciduria. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022:287-295.
Society for Inherited Metabolic Disorders. Position statement on newborn screening for 3-methylglutaconic aciduria and related disorders. JIMD Rep. 2021;59(1):3-8.
Kelley RI, Homan S, Baker C, et al. A systematic review of organic acidurias: epidemiology, clinical presentation, and outcomes. Genet Med. 2019;21(12):2653-2664.
National Organization for Rare Disorders. 3-Methylglutaconic Aciduria. NORD Rare Disease Database. 2023.
Medication Comparisons
Compare medications used to treat 3 Methylglutaconic Aciduria C3696376. 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