Glutaric acidemia type 3

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ORPHA:35706OMIM:231690E72.3
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1Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Glutaric acidemia type 3 (also called glutaric aciduria type 3 or GA3) is a very rare inherited metabolic disorder. In this condition, the body has trouble breaking down certain building blocks of protein, which leads to a buildup of glutaric acid in the urine. Unlike the more well-known glutaric acidemia type 1, type 3 appears to be a much milder condition and may not cause serious health problems in most people who have it. Most people diagnosed with glutaric acidemia type 3 have been found through newborn screening or metabolic testing done for other reasons, and many have had no obvious symptoms at all. Because so few cases have been reported worldwide, doctors are still learning about what this condition means for long-term health. Some individuals may have mild symptoms, but it is not yet clear whether these are directly caused by the condition itself. At this time, there is no specific treatment required for most people with glutaric acidemia type 3, and the overall outlook appears to be good. Ongoing monitoring by a metabolic specialist is recommended to better understand how the condition behaves over time. Research is still in early stages, and more studies are needed to fully understand this disease.

Also known as:

Key symptoms:

Elevated glutaric acid levels in the urine (often found on lab tests, not felt by the person)Possibly mild developmental concerns in some individualsMay have no noticeable symptoms at allOccasional reports of mild intellectual difficulties, though this link is uncertainFatigue in some reported cases, though not confirmed as a direct symptom

Clinical phenotype terms (13)— hover any for plain English
Glutaric aciduriaHP:0003150Abnormal circulating enzyme concentrationHP:0011021KetoacidosisHP:0001993Abnormal periventricular white matter morphologyHP:0002518KetonuriaHP:0002919Elevated circulating glutaric acid concentrationHP:0003530ImpulsivityHP:0100710
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Glutaric acidemia type 3.

View clinical trials →

No actively recruiting trials found for Glutaric acidemia type 3 at this time.

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Specialists

1 foundView all specialists →

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Glutaric acidemia type 3.

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Community

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Latest news about Glutaric acidemia type 3

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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.Does my child (or I) need any dietary changes or restrictions because of this condition?,How often should we have follow-up appointments and what tests will be done?,Are there any symptoms I should watch for that would require urgent medical attention?,Should other family members be tested for this condition?,Is there a patient registry or research study we could participate in to help advance understanding of this disease?,What is the long-term outlook, and will this condition affect my child's development or quality of life?,Should I inform my child's school or other doctors about this diagnosis, and if so, what should they know?

Common questions about Glutaric acidemia type 3

What is Glutaric acidemia type 3?

Glutaric acidemia type 3 (also called glutaric aciduria type 3 or GA3) is a very rare inherited metabolic disorder. In this condition, the body has trouble breaking down certain building blocks of protein, which leads to a buildup of glutaric acid in the urine. Unlike the more well-known glutaric acidemia type 1, type 3 appears to be a much milder condition and may not cause serious health problems in most people who have it. Most people diagnosed with glutaric acidemia type 3 have been found through newborn screening or metabolic testing done for other reasons, and many have had no obvious s

How is Glutaric acidemia type 3 inherited?

Glutaric acidemia type 3 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Glutaric acidemia type 3?

1 specialists and care centers treating Glutaric acidemia type 3 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.