Using targeted and untargeted metabolomics methodologies for clinical screening and diagnosis of inborn errors of metabolism including lysosomal storage disorders.
Metabolomics methodology is used to measure multiple metabolites in a single test. Targeted metabolomics detects certain known metabolites in a specimen (e.g., amino acids, acylcarnitines, organic acids, very long chain fatty acids, etc.). Untargeted metabolomics, also known as global metabolic profiling, is a technique measuring all the small molecules qualitatively or quantitatively in a biological specimen. As a powerful tool for the diagnosis of inborn errors of metabolism (IEMs), metabolomics offers a comprehensive analysis of metabolic disturbances in patients. The objective of my research is to develop novel targeted and untargeted metabolomics testing for clinical screening and diagnosis of IEMs including lysosomal storage disorders (LSDs), which can detect a large number of enzyme products or intermediate metabolites in a specimen by a single analysis. These tests will expand the scope of current biochemical genetics testing, improve testing efficiency with lower cost and high throughput, and consequently lead to improvements in health care for the patients with inborn errors of metabolism.