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Summary Literature (0)
DOID:0060174 - GABA aminotransferase deficiency

Disease Ontology 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.

Synonyms: gamma-aminobutyric acid transaminase deficiency, Gamma-amino butyric acid transaminase deficiency

Xenbase Genes : abat

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013166 - GABA aminotransaminase deficiency

MIM:
MIM:613163 - GABA-TRANSAMINASE DEFICIENCY; GABATD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): gamma-amino butyric acid metabolism disorder (is_a)