GABA aminotransaminase deficiency (GABA-AT deficiency)

Genetics

• associated with defects in ABAT

Clinical manifestations

• psychomotor retardation
• hypotonia
• hyperreflexia
• lethargy
• refractory seizures

Laboratory

• CSF analysis
  • increased GABA
• serum growth hormone is increased

Diagnostic procedures

• electroencephalogram: EEG abnormalities

More general terms

• enzyme deficiency
• inborn error of metabolism

Additional terms

• 4-aminobutyrate aminotransferase, mitochondrial; gamma-amino-N-butyrate transaminase; GABA transaminase; GABA-T; GABA aminotransferase; GABA-AT; L-AIBAT; (S)-3-amino-2-methylpropionate transaminase (ABAT, GABAT)

Database

• OMIM: https://mirror.omim.org/entry/137150