GABA aminotransferase deficiency

Term ID

DOID:0060174

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. https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms

References

• OMIM:613163

Ontology

Human Disease   ( DOID:0060174 )