Overview
3-methylglutaconic aciduria type 9 (also known as MGCA9 or 3-MGA type 9) is a very rare inherited metabolic disorder caused by changes in the CLPB gene. This gene provides instructions for making a protein that helps cells manage stress and keep other proteins working properly, especially in the mitochondria — the parts of cells that produce energy. When this protein does not work correctly, harmful substances build up in the body, and cells — particularly in the brain and blood — cannot function normally. The condition mainly affects the nervous system and the blood. Children with MGCA9 often have serious neurological problems, including movement difficulties, intellectual disability, and seizures. Many also develop a dangerous drop in white blood cell counts (neutropenia), which makes fighting infections very difficult. Other features can include cataracts (clouding of the eye lens) and problems with muscle tone. Symptoms usually appear in infancy or early childhood and can be life-threatening. There is currently no cure for 3-methylglutaconic aciduria type 9. Treatment focuses on managing symptoms, preventing infections, and supporting development. Care typically involves a team of specialists including metabolic geneticists, neurologists, and blood specialists. Early diagnosis through genetic testing is important so that families can access the right support and monitoring as quickly as possible.
Also known as:
Key symptoms:
Low white blood cell count (neutropenia), making infections more likelyIntellectual disability or developmental delayMovement problems such as poor coordination or unsteady walking (ataxia)Muscle stiffness or abnormal muscle toneSeizuresClouding of the eye lens (cataracts)Abnormal levels of 3-methylglutaconic acid in the urineFeeding difficulties in infancyDelayed speech and language developmentRecurrent or severe infections due to low immunity
Clinical phenotype terms (25)— 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 9.
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Specialists
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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 9.
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.How often should my child's white blood cell count be checked, and what level should trigger emergency care?,Is my child a candidate for G-CSF treatment or bone marrow transplantation, and what are the risks and benefits?,What developmental therapies do you recommend, and how do we access them?,What is the emergency plan if my child develops a fever or signs of serious infection?,Should other family members be tested to see if they are carriers of the CLPB gene change?,Are there any research studies or clinical trials we should know about?,What signs of disease progression should we watch for, and when should we contact you urgently?
Common questions about 3-methylglutaconic aciduria type 9
What is 3-methylglutaconic aciduria type 9?
3-methylglutaconic aciduria type 9 (also known as MGCA9 or 3-MGA type 9) is a very rare inherited metabolic disorder caused by changes in the CLPB gene. This gene provides instructions for making a protein that helps cells manage stress and keep other proteins working properly, especially in the mitochondria — the parts of cells that produce energy. When this protein does not work correctly, harmful substances build up in the body, and cells — particularly in the brain and blood — cannot function normally. The condition mainly affects the nervous system and the blood. Children with MGCA9 ofte
How is 3-methylglutaconic aciduria type 9 inherited?
3-methylglutaconic aciduria type 9 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 9 typically begin?
Typical onset of 3-methylglutaconic aciduria type 9 is infantile. Age of onset can vary across affected individuals.