GABA Transaminase Deficiency With Survival Into Adulthood
GABA Transaminase Deficiency With Survival Into Adulthood
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DOI：
10.1177/0883073818823359
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发表时间：
2019-03-01
影响因子：
1.9
通讯作者：
Pearl, Phillip L.
中科院分区：
文献类型：
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作者：
Hegde, Anaita U.;Karnavat, Purva K.;Pearl, Phillip L.
γ-氨基丁酸（GABA）-转氨酶缺乏症是一种极为罕见的GABA代谢疾病，数十年来被描述为早发性癫痫性脑病加运动障碍和嗜睡，在幼儿期死亡。我们报告了2名受影响的兄弟姐妹在青春期和成年期，都有严重的发育障碍，顽固性癫痫，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寿命。
gamma-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.