| 9 | 谷氨酰胺合成酶基因变异所致的先天性谷氨酰胺缺乏显示文摘Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and cerebrospinal fluid. Each infant had a homozygousmutation in the glutamine synthetase gene (R324C and R341C). Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity. | Hberle J. Grg B. Rutsch F. 张振 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，0，4： | 0 |
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