Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia
Prognostic clues and outcome of early treatment of nonketotic hyperglycinemia
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DOI：
10.1016/0887-8994(96)00158-0
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发表时间：
1996-09-01
影响因子：
3.8
通讯作者：
Harari, M
中科院分区：
文献类型：
--
作者：
Boneh, A;Degani, Y;Harari, M
新生儿期出现的非酮症高甘氨酸血症被认为是一种破坏性的神经系统疾病。大多数患者出生后不久就死亡，存活下来的患者则表现出严重的神经功能缺损、精神运动迟缓和难以控制的抽搐。这些异常可能是由于大脑中 N-甲基-D-天冬氨酸受体过度刺激所致。在本研究中，我们希望描绘新生儿（经典）非酮症高甘氨酸血症患者的预后线索，并评估甘氨酸受体调节剂早期治疗的结果。我们回顾了自 1991 年以来在我们部门接受治疗的六名儿童的图表，以了解可能有助于预测预后的详细信息。出生后临床表现以及初始脑脊液和血浆甘氨酸水平不能预测结果，但早期使用 N-甲基-D-天冬氨酸调节剂治疗似乎可以减少晚期神经系统并发症，并且可能与治疗调节剂似乎减少晚期神经系统并发症一样重要，并且可能与苯甲酸钠治疗一样重要。然而，发育里程碑的实现因患者而异，可能是由于尚不清楚的一个或多个因素。
Nonketotic hyperglycinemia presenting in the neonatal period is considered a devastating neurological condition. Most patients die soon after birth, and those who survive manifest severe neurological deficits, psycho-motor retardation, and convulsions that are difficult to control. These abnormalities probably result from overstimulation of the N-methyl-D-aspartate receptor in the brain. In the present study, we wished to delineate prognostic clues for patients with neonatal (classic) nonketotic hyperglycinemia and to evaluate the results of early treatment with glycine-receptor modulators. The charts of six children treated in our department since 1991 were reviewed for details that might contribute to the prediction of prognosis. Postnatal clinical presentation and initial cerebrospinal fluid and plasma glycine levels were not predictive of outcome, but early treatment with N-methyl-D-aspartate modulators appeared to reduce late neurological complications and probably is as important as treatment modulators appeared to reduce late neurological complications and probably is as important as treatment with sodium benzoate. Attainment of developmental milestones, however, varies from one patient to another, presumably because of a factor or factors still unknown.