The Clinical Findings in a Patient with Nonketotic Hyperglycinemia
The Clinical Findings in a Patient with Nonketotic Hyperglycinemia
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非酮症高甘氨酸血症患者的临床发现
DOI：
10.1203/00006450-196807000-00003
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发表时间：
1968
影响因子：
3.6
通讯作者：
W. Nyhan
中科院分区：
文献类型：
--
作者：
F. Ziter;P. Bray;J. A. Madsen;W. Nyhan
提取物：一例患有高甘氨酸血症的男婴表现为新生儿癫痫发作和嗜睡，但既无酮症也无血液学异常。在2个半月大时开始低蛋白饮食和甘氨酸结合剂治疗。虽然更大的警觉性和减少易怒立即注意到，治疗未能防止严重的发育迟缓和持续性seizure.Speculation：结构和代谢的严重神经系统损害的基础上看到这种罕见的遗传性代谢缺陷是不清楚的。然而，如果期望提供更好的预后，则必须立即进行诊断和治疗。如果仔细监测血清甘氨酸水平，通过低蛋白饮食和甘氨酸结合剂维持血糖正常可能是有用的。
Extract: A male infant with hyperglycinemia presented with neonatal seizures and lethargy, but had neither ketosis nor hematologic abnormalities. Treatment with a low protein diet and glycine-binding agents was instituted at the age of 2 ½ months. Although greater alertness and reduced irritability were noted immediately, the treatment failed to prevent severe developmental retardation and persistent seizures.Speculation: The structural and metabolic basis for the severe neurological damage seen in this rare hereditary metabolic defect is unclear. It seems imperative, however, that prompt diagnosis and therapy be instituted if one expects to offer a better prognosis. Attempts to maintain normoglycmemia by using a low-protein diet and glycine-binding agents may be useful if serum glycine levels are monitored carefully.