GABA aminotransferase deficiency (DOID:0060174)
Alliance: disease page
Synonyms: Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency
Alt IDs: OMIM:613163
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.