| Metadata | |
|---|---|
| ID | DOID:0060174 |
| Name | GABA aminotransferase 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. https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms |
| Xrefs | |
| Synonyms |
Gamma-amino butyric acid transaminase deficiency [EXACT] gamma-aminobutyric acid transaminase deficiency [EXACT] |
| Parent Relationships |