GABA aminotransaminase deficiency
GABA aminotransaminase deficiency
Definition
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
Also known as GABA aminotransferase deficiency, GABA transaminase deficiency, gamma-aminobutyric acid transaminase deficiency — per MONDO