串联质谱技术在发育迟缓患儿早期诊断中的应用价值

目的探讨串联质谱的定量检测在发育迟缓患儿早期诊断中的应用价值。方法应用串联质谱方法对155例发育迟缓患儿进行血氨基酸和酰基肉碱的定量检测，并分析检出结果与临床症状及治疗转归情况。结果155例患儿中确诊10例氨基酸及肉碱缺乏疾病。其中4例确诊为甲基丙二酸血症，1例丙酸血症，1例中链酰基辅酶A脱氢酶缺乏症，1例鸟氨酸氨甲酰转移酶缺乏症，3例苯丙酮尿症。临床表现主要为运动及智力发育迟缓。经过治疗，大部分好转。结论对氨基酸及肉碱的检测，有利于运动及发育迟缓患儿的病因诊断及疗效判断。

Application of tandem mass spectrometry in early-stage diagnosis of growth retardation in children

Objective To develop the clinical application of tandem mass spectrometry in early- stage diagnosis of patients with growth retardation. Methods Tandem mass spectrometry was used to quan- titatively detect blood amino acids and acyl carnitine in 155 cases of children with growth retardation. The tandem mass spectrometry results, clinical symptoms, and treatment tracking results were analyzed. Results Ten patients with inborn metabolic absence of amino acids and acyl carnitine were confirmed including four cases of methylmalonic acidemia, one case of propionic acidemia, one case of medium-chain acyl-coen- zyme A dehydrogenase deficiency, one case of ornithine transcarbamylase deficiency, and three cases of phenylketonuria. Conclusions Tandem mass spectrometry was helpful for some patients in etiologic diag- nosis and therapeutic effect assessment of cerebral developmental retardation.