ABSTRACT
Various proteomics techniques have found wide applications in the field of inborn errors of metabolism (IEM). Detection of IEM by newborn screening (NBS) using tandem mass spectrometry (TMS) is extensively used across the globe. With the development of tandem MS, the sensitivity and specificity of the detection of IEM have increased tremendously. Recent years have also seen the advent of second-tier testing. This has further expanded the scope of IEM diagnosis and treatment. Second-tier testing has also benefitted from advances in proteomics. Other proteomic techniques have also led to various advances in the field of IEM. The most important development has been the identification of novel molecules which can be used as markers for detection of IEM. These markers have led to early diagnosis and in some instances better treatment options in IEM. Developments in these fields shall pave the way for much more rapid diagnosis of IEM and shall play a significant role in improving and enhancing the quality of life in such patients.
