Search Ontology:
Human Disease
GABA aminotransferase deficiency
- Term ID
- DOID:0060174
- Synonyms
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- 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. https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms
- References
- Ontology
- Human Disease ( DOID:0060174 )
- is a type of
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