First experience and prospects for the use of tandem mass spectrometry for selective screening for hereditary metabolic diseases

Tandem mass spectrometry (TMS) opens up a new era in the diagnosis of hereditary diseases of metabolism. This technology expanded the list of detected violations that are treatable, but had not previously been diagnosed. TMS is one of the most modern methods of analysis of compounds in microquantities of biomaterial, to quantify large numbers of metabolites that can serve as a markers of hereditary metabolic diseases (HMD). TMS is used for the diagnosis of the three main groups of HMDs: amino acid metabolism disorders, organic acids metabolism disorders, and defects of mitochondrial fatty acid β-oxidation. The use of this method for the detection of NBO in patients with defined clinical symptoms (selective screening) allows to increase the number of diagnosed curable diseases.

tandem mass spectrometry, hereditary diseases, selective screening