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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
- The Human Phenotype Ontology
| 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 |
