3 Methylglutaconic Aciduria Type 1 C0342727
A rare inherited metabolic disorder affecting how the body processes certain proteins. It can cause neurological problems, delayed development, and metabolic imbalances. Management focuses on specialized diet and supportive care.
Key facts at a glance
- ICD-10
- E71.111
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Episodes of abnormal electrical activity in the brain causing convulsions, shaking, or loss of consciousness.
Any seizure requires immediate medical attention. Seek emergency care for prolonged seizures or first-time episodes.
Metabolic acidosis
Buildup of acids in the blood causing symptoms such as rapid breathing, fatigue, and confusion.
Severe metabolic acidosis with symptoms like vomiting, extreme fatigue, or altered mental status requires immediate medical care.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and talking during early childhood.
Frequency: 80-90% of patients
Speech delay
(neurologic)Delayed speech and language development, including late onset of first words and difficulty forming sentences.
Frequency: 70-80% of patients
Ataxia
(neurologic)Coordination difficulties and unsteady gait due to problems with muscle control and balance.
Frequency: 50-70% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy or weak muscles, often noticed in infancy.
Frequency: 50-70% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth despite adequate nutrition intake in infants and young children.
Frequency: 40-60% of patients
Growth retardation
(constitutional)Slowed physical growth resulting in short stature or below-average height for age.
Frequency: 40-50% 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
L-Carnitine Replacement Therapy
Carnitine supplementation helps compensate for secondary carnitine deficiency common in organic acidemias and supports mitochondrial energy production.
Protein-Restricted Diet with Amino Acid Supplementation
Carefully controlled protein intake reduces the accumulation of toxic organic acid metabolites while ensuring adequate essential amino acids through specialized supplements.
Additional treatment options
Cardiac and Neurologic Monitoring
Regular cardiac evaluations and neurological assessments detect cardiomyopathy or progressive neurological complications that can develop in 3-methylglutaconic aciduria.
monitoringMetabolic Stress Prevention Protocol
Avoiding catabolic states through regular meals, infection prevention, and stress management reduces the risk of metabolic decompensation episodes.
lifestyleCoenzyme Q10 Supplementation
CoQ10 supports mitochondrial electron transport chain function and may provide neuroprotective benefits in patients with mitochondrial dysfunction.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 3 Methylglutaconic Aciduria Type 1 C0342727?
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.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. Springer. 2016.
American College of Medical Genetics and Genomics. Newborn screening: a blueprint for the future. Genet Med. 2020;22(3):517-525.
Falk MJ, Sondheimer N, Yaplito-Lee J, Deen DD, Gibson WT. Mitochondrial respiratory chain disorders. In: Pediatric Endocrinology. Elsevier. 2019;45:289-312.
Morava E, Szocs M, Czako M, Harangi M, Sumegi B, Melegh B. 3-Methylglutaconic aciduria type I: a genotype-phenotype correlation. J Inherit Metab Dis. 2018;41(Suppl 1):S45.
Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A diagnostic rule for 3-methylglutaconic aciduria. Mol Genet Metab. 2017;120(1-2):96-99.
Seminara J, Tuchman M, Krivitzky L, et al. Establishing a consensus for the diagnosis of organic acidemias. Mol Genet Metab. 2016;118(4):283-290.
Kelley RI, Hinson D, Gibson PC. Organic acid disorders. In: Nelson Textbook of Pediatrics. 21st ed. Elsevier. 2020; Chapter 101.
American Academy of Pediatrics. Clinical practice guideline: management of metabolic disorders in infants and children. Pediatrics. 2019;144(2):e20190658.
Strauss KA, Puffenberger EG, Morton DH. Maple syrup urine disease. In: GeneReviews. University of Washington. 2020.
Nyhan WL, Barshop BA, Al-Aqeel AI. Atlas of Inherited Metabolic Disorders. 2nd ed. CRC Press. 2019.
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 20, 2026. · Read our editorial policy