Kish S J, Dixon L M, Burnham W M, Perry T L, Becker L, Cheng J, Chang L J, Rebbetoy M
Clarke Institute of Psychiatry, Human Brain Laboratory, Toronto, Ontario, Canada.
Ann Neurol. 1988 Sep;24(3):458-61. doi: 10.1002/ana.410240319.
We measured neurotransmitter markers in autopsied brain of infants with glycine encephalopathy (GE). Because patients with GE develop intractable seizures, special attention was devoted to those neurotransmitter systems implicated in human epilepsy. Mean levels of glycine in the frontal cortex of GE patients were three times higher than control values. No abnormalities were observed for concentrations of gamma-aminobutyric acid (and related receptors), other major neurotransmitter amino compounds, or activities of cholineacetyltransferase and aspartate aminotransferase. Mean acetylcholinesterase activity was significantly elevated by 46%. As experimental data suggest, glycine markedly potentiates the action of the excitatory neurotransmitter glutamic acid. To the extent that the brain seizures in patients with GE can be explained by this mechanism, pharmacotherapy with excitatory amino acid antagonists may represent a new approach to the treatment of GE.
我们检测了患有甘氨酸脑病（GE）婴儿的尸检大脑中的神经递质标志物。由于GE患者会出现难治性癫痫发作，因此特别关注那些与人类癫痫有关的神经递质系统。GE患者额叶皮质中的甘氨酸平均水平比对照值高出三倍。γ-氨基丁酸（及其相关受体）、其他主要神经递质氨基化合物的浓度，或胆碱乙酰转移酶和天冬氨酸氨基转移酶的活性均未观察到异常。乙酰胆碱酯酶平均活性显著升高了46%。正如实验数据所示，甘氨酸可显著增强兴奋性神经递质谷氨酸的作用。就GE患者的脑部癫痫发作可通过这种机制来解释而言，使用兴奋性氨基酸拮抗剂进行药物治疗可能代表了一种治疗GE的新方法。
