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本文对染色体核型正常且无临床异常发现的30例低智儿童血清18种游离氨基酸进行了测定。结果显示实验组患儿11种血清游离氨基酸降低,包括TAU、SER、VAL、MET、ILE、LEU、TYR、PHE、ORN、LYS、TRP。同时发现2例患儿血中某种氨基酸水平与其父亲血中该种氨基酸水平呈一致性增高,他们可能为氨基酸代谢病的杂合子,涉及高丙氨酸血症和高甘氨酸血症。相关分析显示:患儿血清氨基酸相关性明显减少。本文对以上结果进行了讨论。
In this paper, the determination of 18 kinds of free amino acids in serum of 30 children with mental disorders with normal karyotype and no clinical abnormalities was performed. The results showed that 11 kinds of serum free amino acids were reduced in experimental group, including TAU, SER, VAL, MET, ILE, LEU, TYR, PHE, ORN, LYS and TRP. Also found in 2 cases of children with a certain degree of blood levels of amino acids in the blood of his father consistent with the level of amino acids, they may be heterozygous for amino acid metabolism disease, involving hyperalanine and hyperglycinemia. Correlation analysis showed that children with serum amino acid significantly reduced. This article discusses the above results.