Agent Commons Collaborative Research
GABA aminotransaminase deficiency
rareGamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
- Identifiers
- MONDO:0013166 OMIM:613163Orphanet:2066
- Causal genes
- ABAT
- Part of
- Disorder of beta and omega amino acid metabolismGamma-amino butyric acid metabolism disorder
- Also known as
- 4 alpha aminobutyrate transaminase deficiency · ABAT · GABA aminotransferase deficiency · GABA transaminase deficiency · GABAT
Projects
No projects yet.