Cerebrospinal fluid glycine in nonketotic hyperglycinemic: effect of treatment with sodium benzoate and a ventricular shunt.
Cerebrospinal fluid glycine in nonketotic hyperglycinemic: effect of treatment with sodium benzoate and a ventricular shunt.
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非酮症高甘氨酸血症中的脑脊液甘氨酸：苯甲酸钠和心室分流治疗的效果。
DOI：
10.1016/0026-0495(77)90095-6
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发表时间：
1977
期刊：
影响因子：
--
通讯作者：
A. Eisenbrey
中科院分区：
文献类型：
--
作者：
I. Krieger;E. Winbaum;A. Eisenbrey
在三名患有非酮性高甘氨酸血症的婴儿中，血浆中的甘氨酸增加了3至4倍，腰脊髓液中增加了13至28倍，而脑室液中的甘氨酸更高。口服苯甲酸钠使脑脊液（CSF）甘氨酸降低> 40%，但不改变异常的血浆：CSF比值。口服甘氨酸导致高甘氨酸血症的成人对照组血浆：CSF比值正常。1例患者从出生起就接受苯甲酸钠治疗，但未预防智力低下;另1例患者的脑干抑郁程度与CSF甘氨酸有关。尽管治疗维持了血浆中的正常浓度，但CSF中甘氨酸持续升高似乎是由脑中的过量产生和高容量腰椎重吸收机制的限制引起的。探索了通过使用脑室分流降低CNS甘氨酸的治疗。
In three infants with nonketotic hyperglycinemia, glycine was increased three-to fourfold in plasma, 13- to 28-fold in lumbar spinal fluid, and was higher yet in ventricular fluid. Oral sodium benzoate lowered cerebrospinal fluid (CSF) glycine by >40%, but did not change the abnormal plasma: CSF ratio. An adult control, made hyperglycinemic with oral glycine, had a normal plasma: CSF ratio. Treatment of one patient with sodium benzoate from birth did not prevent mental retardation; the degree of brain stem depression was a function of CSF glycine in another patient. The persistance of glycine elevation in CSF, although therapy maintained normal concentration in plasma, appears to be caused by overproduction in brain and limitation of the high-capacity lumbar spinal reabsorptive mechanism. Treatment through lowering of CNS glycine by use of a ventricular shunt was explored.