Conditions / Genetic
GABA aminotransferase deficiency
info · Genetic
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
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.
Signs and symptoms
- Lethargy
- High-pitched cry
- Seizure
- Feeding difficulties
- Hypotonia
- Global developmental delay
- Hyperreflexia
- Tall stature
- Downslanted palpebral fissures
- Cerebellar hypoplasia
Also known as: Gamma-amino butyric acid transaminase deficiency; gamma-aminobutyric acid transaminase deficiency