γ-氨基丁酸转氨酶缺乏症并存活至成年期。
GABA Transaminase Deficiency With Survival Into Adulthood.
作者信息
Hegde Anaita U, Karnavat Purva K, Vyas R, DiBacco Melissa L, Grant P Ellen, Pearl Phillip L
机构信息
1 Jaslok Hospital and Research Center, Mumbai, Maharashtra, India.
2 Meera Neuro Center, Indore, Madhya Pradesh, India.
出版信息
J Child Neurol. 2019 Mar;34(4):216-220. doi: 10.1177/0883073818823359. Epub 2019 Jan 15.
Abstract
γ-Aminobutyric acid (GABA)-transaminase deficiency is an ultra-rare disorder of GABA metabolism that was described for decades as an early-onset epileptic encephalopathy plus movement disorder and hypersomnolence with mortality in early childhood. We report 2 affected siblings in adolescence and adulthood, both with profound developmental impairment, intractable epilepsy, movement disorder, and behavioral fluctuations. This considerably expands the phenotype and longevity of this inherited neurotransmitter disease.
摘要
γ-氨基丁酸（GABA）转氨酶缺乏症是一种极为罕见的GABA代谢紊乱疾病，数十年来一直被描述为早发性癫痫性脑病，伴有运动障碍和嗜睡，儿童早期会死亡。我们报告了两名青少年和成年期受影响的兄弟姐妹，他们都有严重的发育障碍、难治性癫痫、运动障碍和行为波动。这大大扩展了这种遗传性神经递质疾病的表型和存活时间。
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6
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8
[gamma-Aminobutyric acid transaminase deficiency].
Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):248-9.
9
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10
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本文引用的文献
1
Phenotype of GABA-transaminase deficiency.
Neurology. 2017 May 16;88(20):1919-1924. doi: 10.1212/WNL.0000000000003936. Epub 2017 Apr 14.
2
Personalized medicine approach confirms a milder case of ABAT deficiency.
Mol Brain. 2016 Dec 1;9(1):93. doi: 10.1186/s13041-016-0273-8.
3
Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene.
Brain Dev. 2017 Feb;39(2):161-165. doi: 10.1016/j.braindev.2016.08.005. Epub 2016 Sep 3.
4
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
Cell Metab. 2015 Mar 3;21(3):417-27. doi: 10.1016/j.cmet.2015.02.008.
5
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
J Pediatr Epilepsy. 2014 Nov 25;3(4):217-227. doi: 10.3233/PEP-14097.
6
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
J Inherit Metab Dis. 2010 Feb;33(1):85-90. doi: 10.1007/s10545-009-9022-9. Epub 2010 Jan 6.
7
Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.
Neurology. 2009 Aug 11;73(6):423-9. doi: 10.1212/WNL.0b013e3181b163a5.
8
Inherited disorders of GABA metabolism.
J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902.
9
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.
Neuropediatrics. 1984 Aug;15(3):165-9. doi: 10.1055/s-2008-1052362.
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