Overview
3-methylglutaconic aciduria type 1 (also called MGA type 1 or 3-MGA type 1) is a rare inherited metabolic disorder. It belongs to a group of conditions where the body cannot properly break down certain building blocks of proteins, specifically an amino acid called leucine. When leucine is not broken down correctly, a substance called 3-methylglutaconic acid builds up in the blood and urine. This happens because of a shortage of an enzyme called 3-methylglutaconyl-CoA hydratase, which is needed to complete this process. The condition can affect the brain and nervous system, leading to symptoms like speech delays, learning difficulties, and problems with movement and coordination. Some children have very mild symptoms, while others are more significantly affected. Symptoms often appear in infancy or early childhood. There is currently no cure for 3-methylglutaconic aciduria type 1. Treatment focuses on managing symptoms and may include a low-leucine diet to reduce the buildup of harmful substances, along with supportive therapies like speech therapy and physical therapy. With careful management, many individuals can lead meaningful lives, though ongoing monitoring by a metabolic specialist is important.
Key symptoms:
Speech delay or difficulty speakingIntellectual disability or learning difficultiesProblems with coordination and balanceMuscle weakness or low muscle toneDelayed developmental milestones (such as walking or talking)Elevated levels of 3-methylglutaconic acid in urineBehavioral difficultiesMild neurological problems
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for 3-methylglutaconic aciduria type 1.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for 3-methylglutaconic aciduria type 1 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for 3-methylglutaconic aciduria type 1.
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 type 1.
Community
No community posts yet. Be the first to share your experience with 3-methylglutaconic aciduria type 1.
Start the conversation →Latest news about 3-methylglutaconic aciduria type 1
No recent news articles for 3-methylglutaconic aciduria type 1.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How severe is my child's condition based on their test results, and what does that mean for their development?,What specific dietary changes are needed, and how do we make sure my child still gets enough nutrition?,What should I do if my child gets sick and cannot eat — is there an emergency plan?,Which therapies (speech, physical, occupational) would benefit my child most right now?,How often do we need to do blood and urine tests to monitor the condition?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied that my child might qualify for?
Common questions about 3-methylglutaconic aciduria type 1
What is 3-methylglutaconic aciduria type 1?
3-methylglutaconic aciduria type 1 (also called MGA type 1 or 3-MGA type 1) is a rare inherited metabolic disorder. It belongs to a group of conditions where the body cannot properly break down certain building blocks of proteins, specifically an amino acid called leucine. When leucine is not broken down correctly, a substance called 3-methylglutaconic acid builds up in the blood and urine. This happens because of a shortage of an enzyme called 3-methylglutaconyl-CoA hydratase, which is needed to complete this process. The condition can affect the brain and nervous system, leading to symptoms
How is 3-methylglutaconic aciduria type 1 inherited?
3-methylglutaconic aciduria type 1 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does 3-methylglutaconic aciduria type 1 typically begin?
Typical onset of 3-methylglutaconic aciduria type 1 is infantile. Age of onset can vary across affected individuals.