GABA-Transaminase Deficiency

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Xu, C. GABA-Transaminase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/3933 (accessed on 29 September 2026).

Xu C. GABA-Transaminase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/3933. Accessed September 29, 2026.

Xu, Camila. "GABA-Transaminase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/3933 (accessed September 29, 2026).

Xu, C. (2020, December 23). GABA-Transaminase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/3933

Xu, Camila. "GABA-Transaminase Deficiency." Encyclopedia. Web. 23 December, 2020.

GABA-Transaminase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gaba-transaminase-deficiency

GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy.

genetic conditions

References

Besse A, Petersen AK, Hunter JV, Appadurai V, Lalani SR, Bonnen PE.Personalized medicine approach confirms a milder case of ABAT deficiency. MolBrain. 2016 Dec 1;9(1):93.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K,Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. 2017 May 16;88(20):1919-1924. doi:10.1212/WNL.0000000000003936.
Louro P, Ramos L, Robalo C, Cancelinha C, Dinis A, Veiga R, Pina R, Rebelo O, Pop A, Diogo L, Salomons GS, Garcia P. Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis. 2016Sep;39(5):743-747. doi: 10.1007/s10545-016-9951-z.
Medina-Kauwe LK, Tobin AJ, De Meirleir L, Jaeken J, Jakobs C, Nyhan WL, GibsonKM. 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. J InheritMetab Dis. 1999 Jun;22(4):414-27. Review.
Nagappa M, Bindu PS, Chiplunkar S, Govindaraj P, Narayanappa G, Krishnan A,Bharath MM, Swaminathan A, Saini J, Arvinda HR, Sinha S, Mathuranath PS, Taly AB.Hypersomnolence-hyperkinetic movement disorder in a child with compoundheterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Brain Dev.2017 Feb;39(2):161-165. doi: 10.1016/j.braindev.2016.08.005.
Pearl PL, Gibson KM. Clinical aspects of the disorders of GABA metabolism inchildren. Curr Opin Neurol. 2004 Apr;17(2):107-13. Review.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitterdisorders. J Child Neurol. 2007 May;22(5):606-16. Review.
Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. CurrNeurol Neurosci Rep. 2004 Mar;4(2):147-52. Review.
Tsuji M, Aida N, Obata T, Tomiyasu M, Furuya N, Kurosawa K, Errami A, GibsonKM, Salomons GS, Jakobs C, Osaka H. A new case of GABA transaminase deficiencyfacilitated by proton MR spectroscopy. J Inherit Metab Dis. 2010 Feb;33(1):85-90.doi: 10.1007/s10545-009-9022-9.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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