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Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
Jaeken J, Casaer P, de Cock P, Corbeel L, Eeckels R, Eggermont E, Schechter PJ, Brucher JM. Jaeken J, et al. Neuropediatrics. 1984 Aug;15(3):165-9. doi: 10.1055/s-2008-1052362. Neuropediatrics. 1984. PMID: 6148708
Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be the first report of gamma-aminobutyric acid-transaminase deficiency....
Postmortem examination of his brain showed leukodystrophy of the type seen in amino acidopathies such as phenylketonuria. This appears to be …
[gamma-Aminobutyric acid transaminase deficiency].
Asai M, Wada Y. Asai M, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):248-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590038 Review. Japanese. No abstract available.
Phenotype of GABA-transaminase deficiency.
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Koenig MK, et al. Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14. Neurology. 2017. PMID: 28411234 Free PMC article. Review.
GABA Transaminase Deficiency With Survival Into Adulthood.
Hegde AU, Karnavat PK, Vyas R, DiBacco ML, Grant PE, Pearl PL. Hegde AU, et al. J Child Neurol. 2019 Mar;34(4):216-220. doi: 10.1177/0883073818823359. Epub 2019 Jan 15. J Child Neurol. 2019. PMID: 30644311 Free PMC article.
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency.
Morales-Briceño H, Chang FCF, Wong C, Mallawaarachchi A, Wolfe N, Pellegrino da Silva R, Hakonarson H, Sandaradura SA, Guo Y, Christodoulou J, Lagopoulos J, Grattan-Smith P, Fung VSC. Morales-Briceño H, et al. Neurology. 2019 Jan 8;92(2):94-97. doi: 10.1212/WNL.0000000000006744. Neurology. 2019. PMID: 30617166 Free PMC article. No abstract available.
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
Mancuso M, Papadopoulou MT, Ng YS, Ardissone A, Bellusci M, Bertini E, Di Vito L, Evangelista T, Fons C, Hikmat O, Horvath R, Klopstock T, Kornblum C, Lamperti C, Licchetta L, Molnar MJ, Varhaug KN, O'Callaghan M, Pressler RM, Schiff M, Servidei S, Szabo N, Gorman GS, Cross JH, Rahman S. Mancuso M, et al. Eur J Neurol. 2024 Apr 4:e16275. doi: 10.1111/ene.16275. Online ahead of print. Eur J Neurol. 2024. PMID: 38576261
Exceptions including valproic acid in POLG disease, vigabatrin in patients with gamma-aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted. ...
Exceptions including valproic acid in POLG disease, vigabatrin in patients with gamma-aminobutyric acid transaminase …