Term Name: | GABA aminotransferase deficiency |
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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 ) |