The applications of mass spectrometry in inherited metabolic diseases and prenatal diagnosis

Abstract

The application of mass spectrometry (MS) in the detection of inherited metabolic diseases including the following two aspects. The tandem mass spectrometry (MS/MS) technology is applied to detect small molecules (such as amino acid, acyl carnitine, fragments of steroid hormones and lysosomalmetabolites) of dried blood specimens, thus to screen and diagnose relevant diseases. Meanwhile, the gas chromatographic mass spectrometry (GC/MS) is used to test urine organic acid, thus to diagnose organic acidemia, and assist in the diagnosis of amino acid metabolic diseases and fatty acid oxidative diseases. MS has currently been widely used as the main method for screening newborn with these amino acids, organic acids and fatty acids oxidative metabolic diseases. For the newborn screening of adrenal and lysosomal disorders, MS has been used only in several countries. Furthermore, MS could also be used to perform prenatal diagnosis of organic acidemia through detecting acyl carnitine and organic acid in amniotic fluid. (Chin J Lab Med, 2017, 40: 761-765) Key words: Metabolism, inborn errors; Prenatal diagnosis; Tandem mass spectrometry; Gas chromatography-massspectrometry; Neonatal screening