GABA transaminase deficiency

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

GABA transaminase deficiency. This is caused by mutations in the GABA transaminase (GABAT) gene. Fully referenced neurology checklist.

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

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Electroencephalogram (EEG): features

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Treatment

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Acronym

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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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