| 智低儿童遗传性氨基酸代谢病发病情况探讨 |
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| 引用本文： | 宋力 孟英韬 徐凤铎 叶明德. 智低儿童遗传性氨基酸代谢病发病情况探讨[J]. 中国优生与遗传杂志, 1995, 3(5): 19-21,27 |
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| 作者姓名： | 宋力 孟英韬 徐凤铎 叶明德 |
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| 作者单位： | [1]天津市儿童医院儿科研究所，300074 [2]天津市儿童医院儿科研究所指导，300074 |
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| 摘 要： | 检测100例疑氨基酸代谢病的智低儿童血浆25种氮基酸．筛出道传性氮基醮代谢病3种，共26例。以PKU为主，非PKU高苯丙氨酸血症和枫糖尿病次之。并发现PKU病人血浆Phe浓度与LNAA浓度呈负直线相关。
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| 关 键 词： | PKU 氨基酸代谢病 儿童 遗传性 人血浆 直线相关 发病情况 非P 发现 浓度 |
A study of inherited amino acid metabolic diseases in children with mental retardation |
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| .Song LI,et al.. A study of inherited amino acid metabolic diseases in children with mental retardation[J]. Chinese Journal of Birth Health & Heredity, 1995, 3(5): 19-21,27 |
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| Authors: | .Song LI et al. |
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| Abstract: | Among l00 children with mental retardation,by testing 25 plasma amino acids,26 of them were detected with inherited amino acid metabolic diseases fallen into three catogries.The one with greatest frequency was PKU,then non-PKU hyperphenylalaninemia and the last,maple syrup urine disease.Besides,a negetive correlation between the concertration of Phe and LNAA in PKU patients was illustrated.The results showed that the children with mental retardation were high incidence population of inherited amino acid metabolic diseases,therefore,screening such diseases in children with unknown causes of mental retardation should not be ignored while neohatal screening was generally carried out. |
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| Keywords: | Amino acid Metabolic disease Mental retardation. |
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