Recent Trends in the Diagnosis of Metabolic Disorders

Metabolic diseases exert multi-faceted burdens, including health, economic, emotional, and social burdens, on sick individuals and their families, and on public health systems. This highlights the importance of instituting reliable diagnostic measures for the early detection of metabolic disorders. Hence, recent trends in the diagnosis of metabolic diseases focus on accurate early detection or diagnosis. In this chapter, we report on recent efforts or advances in the diagnosis of metabolic diseases/disorders, with an emphasis on diabetes, dyslipidemia, obesity, and inborn errors of metabolism (IEMs). The recent trends span improved ways of quantifying biomarkers, the identification of novel biomarkers, genetic testing with the development of next generation sequencing (NGS), machine learning, artificial intelligence (AI) algorithms, and the use of non-invasive diagnostic tools.