GABA aminotransaminase deficiency
Gamma-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.
MONDO:0000698
gamma-amino butyric acid metabolism disorder
is_a
MONDO:0017684
disorder of beta and omega amino acid metabolism
is_a
4 alpha aminobutyrate transaminase deficiency
related
ABAT
related
GABA aminotransferase deficiency
exact
GABA transaminase deficiency
exact
GABAT
related
gamma aminobutyrate transaminase deficiency
related
gamma aminobutyric acid transaminase deficiency
related
gamma-aminobutyric acid transaminase deficiency
exact
SPAC19D5.07