Living with Gamma-aminobutyric acid transaminase deficiency
A rare brain disease that begins in infancy, with seizures, weak muscle tone, sleepiness, and delayed development.
Understanding Gamma-aminobutyric acid transaminase deficiency
Babies have repeated seizures, uncontrolled limb movements, exaggerated reflexes, weak muscle tone, and extra sleepiness. They may grow faster in length than usual, even with feeding problems and slow weight gain. Development is greatly affected, and most children do not reach early milestones such as following movement with their eyes or sitting unassisted.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures (epilepsy)
- Uncontrolled limb movements (choreoathetosis)
- Low muscle tone (hypotonia)
- Increased reflexes (hyperreflexia)
- Excessive sleepiness
- Feeding problems and slow weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in ABAT are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ABAT gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 4 alpha aminobutyrate transaminase deficiency; gaba aminotransaminase deficiency; gaba aminotransferase deficiency; gaba transaminase deficiency; gabatd; gamma aminobutyrate transaminase deficiency
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Gamma-aminobutyric acid transaminase deficiency.
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