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 11 - 17 of 17 in total
HPO ID HPO Term
HP:0000278 Retrognathia
HP:0007291 Posterior fossa cyst
HP:0001254 Lethargy
HP:0011968 Feeding difficulties
HP:0001274 Agenesis of corpus callosum
HP:0001250 Seizure
HP:0003623 Neonatal onset
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