Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation
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DOI：
10.1002/ana.20159
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发表时间：
2004-07-01
影响因子：
11.2
通讯作者：
Kure, S
中科院分区：
文献类型：
--
作者：
Korman, SH;Boneh, A;Kure, S
四分之三的新 GLDC 突变（A802V）纯合子非酮症高甘氨酸血症患者接受辅助呼吸和/或苯甲酸钠加或不加氯胺酮治疗，尽管存在非酮症高甘氨酸血症的持续生化证据，但出现短暂的新生儿症状或缺失症状以及正常的发育结果。这种特殊的结果可能与突变蛋白的高残留活性（野生型的 32%）以及在大脑暴露和对甘氨酸敏感性增加的关键时期的治疗干预有关。
Three of four nonketotic hyperglycinemia patients homozygous for a novel GLDC mutation (A802V) were treated by assisted respiration and/or sodium benzoate with or without ketamine and had transient neonatal or absent symptoms and normal developmental outcome, despite persisting biochemical evidence of nonketotic hyperglycinemia. This exceptional outcome may be related to the high residual activity of the mutant protein (32% of wild type) and therapeutic intervention during a critical period of heightened brain exposure and sensitivity to glycine.