Application of tandem mass spectrometry in early-stage diagnosis of growth retardation in children
10.3760/cma.j.issn.1008-1372.2013.08.011
- VernacularTitle:串联质谱技术在发育迟缓患儿早期诊断中的应用价值
- Author:
Xuenong WANG
;
Haiou ZHOU
;
Hui ZHANG
;
Zhiyan ZOU
;
Shuxin CHEN
- Publication Type:Journal Article
- Keywords:
Tandem mass spectrometry;
Developmental disabilities/diagnosis;
Developmental disabilities/etiology;
Developmental disabilities/therapy;
Early diagnosis
- From:
Journal of Chinese Physician
2013;15(8):1048-1050
- CountryChina
- Language:Chinese
-
Abstract:
Objective To develop the clinical application of tandem mass spectrometry in earlystage diagnosis of patients with growth retardation.Methods Tandem mass spectrometry was used to quantitatively 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-coenzyme 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 diagnosis and therapeutic effect assessment of cerebral developmental retardation.
