3 Methylglutaric Aciduria C3151952
An organic acidemia affecting how the body processes certain amino acids. It can cause neurological problems and metabolic crises. Management involves dietary changes and supportive treatment.
Key facts at a glance
- ICD-10
- E88.9
- 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
Metabolic acidosis
Buildup of acids in the blood causing fatigue, rapid breathing, and confusion; often triggered by illness or fasting.
Seek immediate care if experiencing severe vomiting, lethargy, rapid breathing, or altered consciousness, as this can be life-threatening.
Seizures
Episodes of abnormal electrical activity in the brain causing convulsions, staring spells, or involuntary movements.
Seek emergency care for a first-time seizure, seizures lasting more than 5 minutes, or if the patient does not recover consciousness.
Developmental delay
(neurologic)Delayed attainment of motor and cognitive milestones including sitting, walking, and speech development.
Frequency: 80-90% of patients
Hypotonia
(neurologic)Reduced muscle tone causing floppiness in infants and difficulty with head control and motor activities.
Frequency: 70-80% of patients
Feeding difficulties
(gastrointestinal)Poor feeding, refusal to eat, or difficulty with sucking and swallowing in infants and young children.
Frequency: 50-60% of patients
Ataxia
(neurologic)Difficulty with coordination and balance, causing unsteady walking and clumsiness.
Frequency: 40-50% of patients
Failure to thrive
(constitutional)Poor weight gain and growth in height despite adequate nutrition intake.
Frequency: 50-60% of patients
Vomiting
(gastrointestinal)Recurrent vomiting, which may be episodic and associated with metabolic crises.
Frequency: 40-50% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to reduced brain growth.
Frequency: 10-20% 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.
Leucine-Restricted Diet
Metabolic dietary management restricting leucine intake, one of the amino acids metabolized through the affected pathway. This cornerstone treatment requires careful planning with a metabolic dietitian.
L-Carnitine Supplementation
Carnitine supplementation to support mitochondrial function and help eliminate toxic metabolites. This amino acid derivative helps restore normal acylcarnitine profiles.
Additional treatment options
Metabolic Crisis Prevention Protocol
Implementation of sick day protocols with increased fluid intake and emergency instructions for illness or metabolic stress. Regular monitoring of metabolic markers and growth parameters.
monitoringSpecialized Metabolic Formula
Use of amino acid formulas specifically designed for organic acidemias to ensure adequate nutrition while maintaining metabolic control. Formulas provide essential amino acids without leucine.
dietaryEmergency IV Support Protocol
Hospital-based emergency protocol for acute metabolic decompensation including IV glucose, hydration, and possible dialysis in severe cases. Pre-planned protocols reduce morbidity during crises.
procedureWhen 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 Methylglutaric Aciduria C3151952?
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.
Skladanek K, Hlavata A, Kolvova M, et al. 3-Methylglutaconic aciduria: a biochemical diagnostic marker. Bratisl Lek Listy. 2001;102(10):473-476.
Fischer J, Karch J, Walter B, et al. 3-Methylglutaconic aciduria type I: a clinical and molecular study. J Inherit Metab Dis. 2002;25(5):373-380.
Sim KG, Carpenter K, Hammond J, et al. 3-Methylglutaconic aciduria in a patient with probable autism. Dev Med Child Neurol. 2002;44(11):768-772.
Kelley RI, Henneberry RC. The molecular basis of human 3-methylglutaconic aciduria. Pediatr Res. 2003;53(5):708-714.
Kelley RI. 3-Methylglutaconic aciduria. In: Saudubray JM, van den Berghe G, Walter JH, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Springer; 2011:229-234.
Watson MS, Lloyd-Puryear MA, Mann MY, et al. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(5):1S-252S.
El-Hattab AW. 3-Methylglutaconic Aciduria. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. University of Washington; 2017.
Haas RH, Marsden DL, Capistrano-Estrada S, et al. Acute management of organic acidemias. Clin Pediatr. 1995;34(1):4-13.
Morris AA, Kožich V, Chakrapani A, et al. Guidelines for the management and treatment of organic acidurias and urea cycle disorders. J Inherit Metab Dis. 2017;40(5):749-777.
Schulze A, Lindner M, Kohlmuller D, et al. Expanded newborn screening for metabolic disorders by tandem mass spectrometry: results of the pilot project in Bavaria. J Inherit Metab Dis. 2003;26(6):523-538.
Medication Comparisons
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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