Update on inherited disorders of GABA metabolism

IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY
Itay Tokatly Latzer , Phillip L. Pearl
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引用次数: 0

Abstract

γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.
GABA代谢的遗传性疾病的最新进展
γ-氨基丁酸(GABA)是主要的抑制性皮质神经递质,参与影响认知、交流、运动、行为和癫痫阈值的神经回路的关键功能。gaba能神经元和中间神经元参与皮层动态组织和调节过程的基本方面,并介导突触发育方面。遗传性代谢障碍影响GABA的代谢途径、转运及其受体,导致广泛的神经发育表现。表现通常发生在早期,但也可能发生在以后的生活中,严重程度不一。这组疾病值得更多的怀疑,因为它们的早期识别和管理可能导致临床改善,缩短通常与受影响个体相关的诊断过程。我们概述了琥珀半醛脱氢酶(SSADH)、GABA转氨酶、GABA转运蛋白和GABA受体亚基缺乏引起的GABA代谢主要疾病的科学基础、临床表现和目前的治疗进展。
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来源期刊
CiteScore
6.30
自引率
3.20%
发文量
115
审稿时长
81 days
期刊介绍: The European Journal of Paediatric Neurology is the Official Journal of the European Paediatric Neurology Society, successor to the long-established European Federation of Child Neurology Societies. Under the guidance of a prestigious International editorial board, this multi-disciplinary journal publishes exciting clinical and experimental research in this rapidly expanding field. High quality papers written by leading experts encompass all the major diseases including epilepsy, movement disorders, neuromuscular disorders, neurodegenerative disorders and intellectual disability. Other exciting highlights include articles on brain imaging and neonatal neurology, and the publication of regularly updated tables relating to the main groups of disorders.
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