Application of tandem mass spectrometry in early-stage diagnosis of growth retardation in children / 中国医师杂志

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.