ABAT

Publications

Hegde AU et al. GABA Transaminase Deficiency with Survival into Adulthood. J Child Neurol. 2019;34(4):216-220.  PMID: 30644311.

Koenig MK et al. Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. JIMD Rep. 2018;43:13-17  PMID: 29480352.

Ichikawa K et al. Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. JIMD Rep. 2019;43:7-12.  PMID: 29478219.

Koenig MK et al. Phenotype of GABA-transaminase Deficiency. Neurology. 2017;80(20):1919-1924.  PMID: 28411234.

Nagappa M et al. Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. Brain Dev. 2017;39: 161-165.  PMID: 27596361.

Besse A et al. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015;21(3):417-27.  PMID: 25738457.

Tsuji M et al. A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis. 2010;33:85–90.  PMID: 20052547.

Jaeken J et al. Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. Neuropediatrics. 1984;15:165–169.  PMID: 6148708.