GABA transaminase deficiency

Evidence-based neurology checklist on gaba transaminase deficiency: Genetics This is caused by mutations in the GABA transaminase (GABAT) gene It results in GABAT deficiency and high levels of GABA in the serum and CSF The transmission is autosomal recessive It causes neonatal or early infantile…

Genetics

  • This is caused by mutations in the GABA transaminase (GABAT) gene
  • It results in GABAT deficiency and high levels of GABA in the serum and CSF
  • The transmission is autosomal recessive
  • It causes neonatal or early infantile epilepsy

Clinical features

Electroencephalogram (EEG): features

Treatment

Acronym

References

  1. Koenig MK, Hodgeman R, Riviello JJ, et al. Phenotype of GABA-transaminase deficiency. Neurology 2017; 88:1919-1924.
  2. Louro P, Ramos L, Robalo C, et al. Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis 2016; 39:743-747. 
  3. Medina-Kauwe LK, Nyhan WL, Gibson KM, Tobin AJ. Identification of a familial mutation associated with GABA-transaminase deficiency disease. Neurobiol Dis 1998; 5:89-96.
  4. Morales-Briceño H, Chang FCF, Wong C, et al. Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency. Neurology 2019; 92:94-97.

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