3 Methylglutaconic Aciduria Type 5 C1857776
A genetic mitochondrial disorder that often causes movement problems, muscle stiffness, and developmental delay. Some forms involve the optic nerve and auditory system. Management focuses on supportive care and addressing specific symptoms.
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
Dilated Cardiomyopathy
Enlarged and weakened heart muscle that reduces the heart's ability to pump blood effectively.
Seek immediate care if experiencing chest pain, severe shortness of breath, fainting, or rapid heartbeat.
Seizures
Uncontrolled electrical disturbances in the brain causing convulsions, loss of consciousness, or abnormal movements.
Seek emergency care for first-time seizures, seizures lasting more than 5 minutes, or if injuries occur.
Ataxia
(neurologic)Loss of coordination and balance causing unsteady walking and difficulty with fine motor movements.
Frequency: 70-80% of patients
Growth Delay
(constitutional)Stunted physical growth resulting in short stature and failure to reach expected height and weight milestones.
Frequency: 75-85% of patients
Metabolic Acidosis
(metabolic)Excess acid buildup in the body fluids due to impaired metabolism, causing rapid breathing, fatigue, and confusion.
Frequency: 50-60% of patients
Sparse Hair
(dermatologic)Abnormally thin, fine, or patchy hair growth affecting the scalp and sometimes eyebrows.
Frequency: 40-50% of patients
Global Developmental Delay
(neurologic)Significant delays in reaching developmental milestones including speech, motor skills, and cognitive abilities.
Frequency: 60-70% of patients
Hypotonia
(neurologic)Reduced muscle tone causing floppy limbs, poor head control, and delayed motor development in infants.
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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurological and developmental surveillance
Regular assessment of cognitive function, motor development, and seizure activity. Early intervention with specialists improves long-term outcomes.
Anticonvulsant therapy
If seizures develop, appropriate anticonvulsant medications tailored to seizure type. Mitochondrial epilepsies may respond differently to certain medications.
Additional treatment options
CoQ10 and idebenone supplementation
Antioxidant support specifically targeting mitochondrial oxidative damage. Idebenone may provide neuroprotective benefits in some forms of mitochondrial disease.
medicationNeurodevelopmental therapy
Occupational and physical therapy to maintain motor function, improve coordination, and support activities of daily living as disease progresses.
physical_therapyCognitive and behavioral support
Psychological services addressing learning difficulties, behavioral challenges, and emotional adjustment to chronic illness for patients and families.
psychologicalWhen 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 5 C1857776?
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.
Wortmann SB, Kluijtmans NJ, Rodenburg RJ, et al. 3-Methylglutaconic aciduria - lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013;36(6):913-921.
Wortmann SB, Rodenburg RJ, Huizing M, et al. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leb hereditary optic neuropathy (LHON) is suggestive of mitochondrial DNA mutation. Mitochondrion. 2006;6(2):73-77.
Iacobazzi V, Convertini P, Infantino V, Scarcia P, Palmieri F. Cloning and functional analysis of human DNAJC19, the mitochondrial protein mutated in 3-methylglutaconic aciduria type V. Mitochondrion. 2009;9(3):173-181.
Towell A, Garcia L, Zeiari M, et al. 3-Methylglutaconic Aciduria Type V: Gene Review. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington; 2020.
Saudubray JM, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Levy HL, Guldberg P, Güttler F, et al. Maple syrup urine disease, 3-methylglutaconic aciduria, and other organic acidurias. In: Physician's Guide to the Treatment and Follow-up of Metabolic Diseases. Springer; 2006:69-85.
Mayr JA, Freisinger P, Schlachter K, et al. Mitochondrial cardiomyopathy caused by mutations in DNAJC19. Wien Klin Wochenschr. 2009;121(21-22):672-676.
Online Mendelian Inheritance in Man (OMIM). # 610198: 3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5. Johns Hopkins University.
Medication Comparisons
Compare medications used to treat 3 Methylglutaconic Aciduria Type 5 C1857776. 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