GABA aminotransferase deficiency

Summary
Synonym
  • 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.
Super Class
gamma-amino butyric acid metabolism disorder
External Links
Disease Ontology
DOID:0060174
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
18 ABAT 4-aminobutyrate aminotransferase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0010851 EEG with burst suppression
HP:0000494 Downslanted palpebral fissures
HP:0002415 Leukodystrophy
HP:0000098 Tall stature
HP:0001321 Cerebellar hypoplasia
HP:0003819 Death in childhood
HP:0001252 Hypotonia
HP:0000007 Autosomal recessive inheritance
HP:0001347 Hyperreflexia
Displaying 1 entry
Gene ID Gene Symbol Description
18 ABAT 4-aminobutyrate aminotransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024