Metabolic studies in genomic era

Abstract

Introduction: There are about 1450 Inborn Metabolic Disorders listed in the International Classification of Inherited Metabolic Disorders. The outcome in these disorders depends on the early diagnosis and prompt treatment. However, the diagnosis of these disorders is very complex due to the vast diversity in presentation. With advancement of science and technology, the genomic studies have become easily available and less costly. However, the biochemical studies still have a very important part to play in the early diagnosis of these disorders as well as treatment monitoring. Genomic era has opened many doors of opportunity for improved diagnosis, appropriate and rational treatment, and good follow-up. Aims and Objectives: To understand the relevance and usefulness of metabolic or biochemical tests for identification on inborn errors of metabolism in the genomic era. Materials and Methods: Published literature in English was searched on PubMed using the keywords metabolic studies, new-born screening (NBS), biomarkers, metabolomics, and inborn errors of metabolism. We selected 10 such publications to understand the relevance of biochemical or metabolic studies in the current genomic era. Results and Discussion: Since there is no experimental data or statistics involved here, we will discuss the application of metabolic tests or metabolomics in the current era. Conclusion: Biochemical studies are important for NBS or family screening, diagnostic testing, biomarkers, testing for follow-up of treatment, and prognostication purposes and metabolomics. A combined biochemical and genetic testing approach helps in increasing the diagnostic yield, and hence, it is important to examine a patient clinically and then plan investigations to save time and resources