Overview
A disorder of gamma-aminobutyric acid (GABA) metabolism is a rare inherited condition that affects how the body processes GABA, the brain's main calming chemical messenger. GABA helps control nerve activity throughout the brain and nervous system. When the enzymes responsible for breaking down or building GABA do not work properly, harmful substances can build up or important chemicals can become too low, disrupting normal brain function. This group of disorders includes conditions such as GABA transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency, and homocarnosinosis, each caused by a fault in a different step of the GABA breakdown pathway. These conditions primarily affect the brain and nervous system. Most people develop symptoms in infancy or early childhood, including seizures, intellectual disability, delayed development, and problems with movement and behavior. The severity can vary widely depending on which specific enzyme is affected and how much function is lost. Treatment is mainly focused on managing symptoms, especially seizures and behavioral challenges. There is currently no cure. Some specific subtypes, like SSADH deficiency, are being actively studied for targeted therapies. A team of specialists including neurologists and metabolic geneticists is usually needed to manage care over a lifetime.
Also known as:
Key symptoms:
Seizures or epilepsyIntellectual disability or learning difficultiesDelayed speech and language developmentDelayed motor milestones such as late walkingLow muscle tone (floppiness)Behavioral problems such as hyperactivity or aggressionAnxiety or obsessive behaviorsSleep disturbancesAtaxia (unsteady or clumsy movements)Poor coordinationAbnormal eye movementsAutistic-like features
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
FDA & Trial Timeline
1 eventData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of gamma-aminobutyric acid metabolism.
View clinical trials →Clinical Trials
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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 Disorder of gamma-aminobutyric acid metabolism.
Community
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Start the conversation →Latest news about Disorder of gamma-aminobutyric acid metabolism
Disease timeline:
New recruiting trial: Biological Effects of Schema Therapy
A new clinical trial is recruiting patients for Disorder of gamma-aminobutyric acid metabolism
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.Which specific enzyme or gene is affected in my child's case, and how does that affect the treatment plan?,What anti-seizure medications are most appropriate, and are there any we should avoid?,Are there any clinical trials or research studies we could participate in?,What therapies (speech, occupational, physical) should we start, and how often?,What signs should prompt us to go to the emergency room?,Should other family members be tested for this condition?,What does the long-term outlook look like, and what support services should we plan for?
Common questions about Disorder of gamma-aminobutyric acid metabolism
What is Disorder of gamma-aminobutyric acid metabolism?
A disorder of gamma-aminobutyric acid (GABA) metabolism is a rare inherited condition that affects how the body processes GABA, the brain's main calming chemical messenger. GABA helps control nerve activity throughout the brain and nervous system. When the enzymes responsible for breaking down or building GABA do not work properly, harmful substances can build up or important chemicals can become too low, disrupting normal brain function. This group of disorders includes conditions such as GABA transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency, and homocarnosinosi
How is Disorder of gamma-aminobutyric acid metabolism inherited?
Disorder of gamma-aminobutyric acid metabolism follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Disorder of gamma-aminobutyric acid metabolism typically begin?
Typical onset of Disorder of gamma-aminobutyric acid metabolism is infantile. Age of onset can vary across affected individuals.
Which specialists treat Disorder of gamma-aminobutyric acid metabolism?
5 specialists and care centers treating Disorder of gamma-aminobutyric acid metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.