3 Methylglutaconic Aciduria Type 3 C0574084
A genetic metabolic disorder that primarily affects the nervous system, often causing vision problems, movement difficulties, and cognitive challenges. Treatment involves supportive therapies and regular monitoring.
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
Cardiomyopathy
Disease of the heart muscle that can lead to reduced cardiac function and heart failure.
Seek immediate medical care for chest pain, shortness of breath, or swelling in legs.
Seizures
Epileptic episodes that may vary in type and severity.
Seek emergency care for new or prolonged seizures.
Optic Atrophy
(neurologic)Progressive vision loss due to degeneration of the optic nerve, often leading to reduced visual acuity.
Frequency: 90-100% of patients
Ataxia
(neurologic)Impaired coordination and balance causing unsteady gait and difficulty with fine motor movements.
Frequency: 80-90% of patients
Spasticity
(neurologic)Muscle stiffness and increased tone that can affect movement and posture.
Frequency: 60-70% of patients
Developmental Delay
(constitutional)Delayed attainment of developmental milestones in motor, speech, and cognitive domains.
Frequency: 70-80% of patients
Speech Difficulty
(neurologic)Impaired speech development and articulation, often with slow or hesitant speech patterns.
Frequency: 60-70% of patients
Feeding Difficulties
(gastrointestinal)Difficulty with feeding and swallowing that may lead to poor weight gain and nutritional concerns.
Frequency: 20-30% of patients
Growth Retardation
(constitutional)Slowed growth in height and weight compared to age-matched peers.
Frequency: 50-60% 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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Regular Neurological and Ophthalmologic Surveillance
Comprehensive monitoring of optic nerve function and basal ganglia status through periodic ophthalmologic exams and neurological assessments. Early detection of vision changes or movement abnormalities allows for timely intervention and management of complications.
Movement Disorder Management
Pharmacological management of extrapyramidal symptoms such as dystonia and choreoathetosis using anticholinergic agents or muscle relaxants as needed. Treatment is individualized based on symptom severity and response.
Additional treatment options
Physical and Occupational Therapy
Structured therapy programs to maintain motor function, improve coordination, and address movement disorders. Therapists focus on functional independence and preventing contractures.
physical_therapyNeuropsychological Support
Cognitive and behavioral support services to address any learning difficulties or psychological impact of progressive visual and motor symptoms. Family counseling may be beneficial.
psychologicalCoenzyme Q10 Supplementation
Mitochondrial support through CoQ10 supplementation, which may provide modest benefit in mitochondrial energy metabolism. Evidence is supportive but not definitive.
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 3 C0574084?
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.
Elpeleg O, Mandel H, Abu-Libdeh B. 3-Methylglutaconic aciduria: not a rare disease. J Inherit Metab Dis. 2003.
Wortmann SB, Duran M, Loupatty CJ, et al. Membranous lipodystrophy and 3-methylglutaconic aciduria: OPA3 mutations and spectrum. J Inherit Metab Dis. 2012.
Morava E, Wevers RA, Cantagrel V, et al. A novel mitochondrial disease with 3-methylglutaconic aciduria. J Neurol Sci. 2005.
OMIM #258501: 3-Methylglutaconic Aciduria, Type III. Online Mendelian Inheritance in Man.
Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics. 2007.
Saudubray JM, van den Berghe G, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Springer; 2016.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, et al. 3-Methylglutaconic aciduria (MGA) type III is caused by mutations in OPA3. J Med Genet. 2009.
Orphanet: 3-Methylglutaconic aciduria type 3. Orphanet Rare Disease Database.
Schuelke M, Smeitink J, Maranda B, et al. Mutated ATPase responsible for 3-methylglutaconic aciduria. Nat Genet. 1999.
Kluijtmans LA, Morava E, van Gennip AH, et al. Dutch consensus on diagnosis and treatment of mitochondrial disorders. Ned Tijdschr Geneeskd. 2012.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy