Overview
3-methylglutaconic aciduria type 8 (also called MGCA8 or MGA type 8) is a very rare inherited metabolic disorder. It belongs to a group of conditions where the body has trouble processing certain fats, leading to a buildup of a substance called 3-methylglutaconic acid in the urine and blood. This condition is caused by changes (mutations) in the HTRA2 gene, which plays an important role in protecting cells — especially brain cells — from damage. The condition mainly affects the nervous system and the brain. Children with MGCA8 often show signs early in life, including problems with movement, muscle tone, and development. Some children experience seizures, intellectual disability, and difficulty coordinating their movements. The condition can also affect the eyes and heart in some cases. Currently, there is no cure for MGCA8. Treatment focuses on managing symptoms, such as controlling seizures with medication, supporting development through physical and occupational therapy, and monitoring for complications. Because this disease is so rare, research is still ongoing, and care is typically managed by a team of specialists including metabolic geneticists and neurologists.
Also known as:
Key symptoms:
Intellectual disability or developmental delayMuscle weakness or poor muscle tone (hypotonia)SeizuresProblems with movement and coordination (ataxia)Abnormal eye movements or vision problemsSpasticity (stiff or tight muscles)Slow or absent speech developmentFeeding difficulties in infancyElevated levels of 3-methylglutaconic acid in urineBrain abnormalities seen on MRI scans
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 8.
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Specialists
View all specialists →No specialists are currently listed for 3-methylglutaconic aciduria type 8.
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 8.
Community
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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.What specific mutation was found in the HTRA2 gene, and what does it mean for my child's prognosis?,What therapies should we start right away to support my child's development?,How often should my child be monitored for heart and eye problems?,What is our emergency plan if my child has a prolonged seizure?,Are there any clinical trials or research studies we should consider enrolling in?,Should other family members be tested for carrier status?,What support services and special education resources are available for my child?
Common questions about 3-methylglutaconic aciduria type 8
What is 3-methylglutaconic aciduria type 8?
3-methylglutaconic aciduria type 8 (also called MGCA8 or MGA type 8) is a very rare inherited metabolic disorder. It belongs to a group of conditions where the body has trouble processing certain fats, leading to a buildup of a substance called 3-methylglutaconic acid in the urine and blood. This condition is caused by changes (mutations) in the HTRA2 gene, which plays an important role in protecting cells — especially brain cells — from damage. The condition mainly affects the nervous system and the brain. Children with MGCA8 often show signs early in life, including problems with movement,
How is 3-methylglutaconic aciduria type 8 inherited?
3-methylglutaconic aciduria type 8 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 8 typically begin?
Typical onset of 3-methylglutaconic aciduria type 8 is infantile. Age of onset can vary across affected individuals.