Term Name: GABA aminotransferase deficiency
Synonyms: Gamma-amino butyric acid transaminase deficiency, gamma-aminobutyric acid transaminase deficiency
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Ontology: Human Disease [DOID:0060174]   ( DOID:0060174 )

Relationships
is a type of: gamma-amino butyric acid metabolism disorder