Overview
3-methylglutaconic aciduria (3-MGA) is a group of rare inherited metabolic disorders in which the body has trouble breaking down certain proteins and fats. This leads to a buildup of a substance called 3-methylglutaconic acid in the urine, blood, and tissues. There are several types of 3-MGA (historically classified as types I through V and beyond), each caused by different genetic problems and affecting the body in different ways. The Orphanet code 289902 refers to the broader category of 3-methylglutaconic aciduria. Symptoms vary widely depending on the specific type but can include muscle weakness, movement problems, developmental delays, heart problems (cardiomyopathy), vision loss (optic atrophy), hearing loss, and neurological decline. Some forms appear in newborns or infants, while others may show up later in childhood. The severity ranges from mild to life-threatening. There is currently no cure for any form of 3-MGA. Treatment focuses on managing symptoms and preventing metabolic crises. This may include dietary modifications, supplements like coenzyme Q10 or carnitine, physical therapy, and close monitoring by a team of specialists. During illness or stress, children with 3-MGA may experience metabolic crises that require urgent medical attention. Early diagnosis through urine organic acid testing and genetic testing can help families plan appropriate care and monitoring.
Key symptoms:
Elevated 3-methylglutaconic acid in urineDevelopmental delayIntellectual disabilityMuscle weaknessPoor muscle tone (floppiness)Heart problems (enlarged or weakened heart)Vision loss or optic nerve damageHearing lossMovement difficulties or unsteadinessSeizuresFailure to thrive or poor growthFatigue and low energyRecurrent infections (in some types)Low blood cell counts (in some types)Speech delays
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventColumbia University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for 3-methylglutaconic aciduria.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for 3-methylglutaconic aciduria.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to 3-methylglutaconic aciduria.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific subtype of 3-methylglutaconic aciduria does my child have, and what gene is involved?,What organs and body systems should we monitor most closely?,What is the emergency protocol if my child becomes sick or stops eating?,Are there any dietary changes or supplements that could help?,How often should we have follow-up appointments with each specialist?,Are there any clinical trials or research studies we could participate in?,What developmental and educational supports should we put in place now?
Common questions about 3-methylglutaconic aciduria
What is 3-methylglutaconic aciduria?
3-methylglutaconic aciduria (3-MGA) is a group of rare inherited metabolic disorders in which the body has trouble breaking down certain proteins and fats. This leads to a buildup of a substance called 3-methylglutaconic acid in the urine, blood, and tissues. There are several types of 3-MGA (historically classified as types I through V and beyond), each caused by different genetic problems and affecting the body in different ways. The Orphanet code 289902 refers to the broader category of 3-methylglutaconic aciduria. Symptoms vary widely depending on the specific type but can include muscle
Are there clinical trials for 3-methylglutaconic aciduria?
Yes — 1 recruiting clinical trial is currently listed for 3-methylglutaconic aciduria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.