非酮症高甘氨酸血症：当前治疗方法的见解
Nonketotic Hyperglycinemia: Insight into Current Therapies.
作者信息
Nowak Magdalena, Chuchra Piotr, Paprocka Justyna
机构信息
Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
出版信息
J Clin Med. 2022 May 27;11(11):3027. doi: 10.3390/jcm11113027.
Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is characterized by the accumulation of glycine in all tissues, especially in the central nervous system (CNS). Based on clinical outcomes, NKH can be divided into two forms, i.e., severe and attenuated NKH. A poor prognosis, including no developmental progress and intractable epilepsy, is typical of severe NKH, whereas patients with the attenuated form present with varied symptoms and neurodevelopmental outcomes. So far, no causal treatment of NKH is known. Currently, the therapy is based on sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine). Different clinical outcomes of the therapy raise doubts about the effectiveness of the treatment. The purpose of this review is to summarize the therapeutic potential, challenges and effectiveness of different NKH therapies.
非酮症高甘氨酸血症（NKH）是一种罕见的甘氨酸代谢先天性缺陷疾病，其特征是甘氨酸在所有组织中蓄积，尤其是在中枢神经系统（CNS）。根据临床结果，NKH可分为两种形式，即重度和轻度NKH。重度NKH的典型预后较差，包括无发育进展和难治性癫痫，而轻度NKH患者的症状和神经发育结果各不相同。到目前为止，尚无已知的NKH病因治疗方法。目前，治疗方法基于苯甲酸钠和NMDA（N-甲基-D-天冬氨酸受体）受体位点拮抗剂（右美沙芬、氯胺酮）。该疗法不同的临床结果引发了对其有效性的质疑。本综述的目的是总结不同NKH疗法的治疗潜力、挑战和有效性。
Zotero 插件