30例低智儿童血清18种游离氨基酸分析

A STUDY OF SERUM LEVELS OF FREE AMINO ACID IN 30 CHILDREN WITH MENTAL RETARDATION

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 study, we determined the serum levels of 18 Free amino aids in 30 children with mental retardation who had normal karyotypes without clinical deformities. The results revealed that in the research group,11 serum free amino acid levels were lower than normal, they were TAU,SER,YAL,MET ILE,LEU,TYR,PHE ORN,LYS and TRP.Meanwhile, we found the amino acid levels in 2 children corresponded to their fathers their SD were higher than the normal. The correlation coefficient of the serum amino acid level in MR children was less than that in the control group. All above results are discussed.