Overview
3-methylglutaconic aciduria type 3, also known as Costeff syndrome or OPA3-related 3-methylglutaconic aciduria, is a rare inherited metabolic and neurological disorder. It is caused by changes in the OPA3 gene, which affects how cells produce and manage energy in their mitochondria — the tiny power plants inside every cell. When this gene does not work properly, a substance called 3-methylglutaconic acid builds up in the urine, and the brain and eyes are particularly affected. The most noticeable features of this condition are early vision loss caused by damage to the optic nerves (the nerves connecting the eyes to the brain), along with movement problems such as poor coordination, involuntary muscle movements (chorea), and stiffness. Many people also develop intellectual disability and some may have problems with their muscles or heart over time. Symptoms usually begin in early childhood. There is currently no cure for 3-methylglutaconic aciduria type 3. Treatment focuses on managing symptoms, supporting vision, and helping with movement and learning through therapies. Regular monitoring by a team of specialists is important to catch and manage complications early.
Also known as:
Key symptoms:
Progressive vision loss due to optic nerve damage (optic atrophy)Poor coordination and balance problems (ataxia)Involuntary, jerky or writhing movements (chorea)Muscle stiffness or spasticityIntellectual disability or learning difficultiesElevated levels of 3-methylglutaconic acid in the urineElevated levels of 3-methylglutaric acid in the urineSlurred or difficult speechWeakness in the arms and legsPossible heart muscle problems (cardiomyopathy) in some individuals
Clinical phenotype terms (9)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for 3-methylglutaconic aciduria type 3.
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Specialists
View all specialists →No specialists are currently listed for 3-methylglutaconic aciduria type 3.
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 3.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.What specific OPA3 gene change has been found in my child, and what does it mean for their outlook?,How quickly is the vision loss likely to progress, and what vision aids or services should we access now?,Should other family members be tested to see if they are carriers of this condition?,What therapies — physiotherapy, occupational therapy, speech therapy — should my child start, and how often?,Does my child need heart monitoring, and how often should this be done?,Are there any clinical trials or research studies we could consider joining?,What support services and educational resources are available for children with this condition?
Common questions about 3-methylglutaconic aciduria type 3
What is 3-methylglutaconic aciduria type 3?
3-methylglutaconic aciduria type 3, also known as Costeff syndrome or OPA3-related 3-methylglutaconic aciduria, is a rare inherited metabolic and neurological disorder. It is caused by changes in the OPA3 gene, which affects how cells produce and manage energy in their mitochondria — the tiny power plants inside every cell. When this gene does not work properly, a substance called 3-methylglutaconic acid builds up in the urine, and the brain and eyes are particularly affected. The most noticeable features of this condition are early vision loss caused by damage to the optic nerves (the nerves
How is 3-methylglutaconic aciduria type 3 inherited?
3-methylglutaconic aciduria type 3 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 3 typically begin?
Typical onset of 3-methylglutaconic aciduria type 3 is childhood. Age of onset can vary across affected individuals.