GABA-Transaminase (GABA-T) Deficiency

GABA-transaminase deficiency is a rare metabolic encephalopathy caused by impaired breakdown of the inhibitory neurotransmitter GABA. Affected individuals present in infancy with hypotonia, seizures, developmental delay, and often hyperreflexia or movement abnormalities. Genetic testing confirms the diagnosis and guides management and counseling.