Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting

Abstract

Inborn errors of metabolism (IEM) are a diverse collection of abnormalities that cause a variety of morbidities and mortality in children and are classified as uncommon genetic diseases. Early and accurate detection of the condition can save a patient's life. By aiding families as they navigate the experience of having a child with an IEM, healthcare practitioners have the chance to reduce the burden of negative emotional consequences. New therapeutic techniques, such as enzyme replacement and small chemical therapies, organ transplantation, and cellular and gene-based therapies using whole-genome sequencing, have become available in addition to traditional medical intake and cofactor treatments. In the realm of metabolic medicine and metabolomics, the twentyfirst century is an exciting time to be alive. The availability of metabolomics and genomic analysis has led to the identification of a slew of novel diseases. Due to the rarity of individual illnesses, obtaining high-quality data for these treatments in clinical trials and real-world settings has proven difficult. Guidelines produced using standardized techniques have helped enhance treatment delivery and clinical outcomes over time. This article gives a comprehensive description of IEM and how to diagnose it in patients who have developed clinical signs early or late. The appropriate use of standard laboratory outcomes in the preliminary patient assessment is also emphasized that can aid in the ordering of specific laboratory tests to confirm a suspected diagnosis, in addition, to begin treatment as soon as possible in a resource limiting setting where genomic analysis or newborn screening facility is not available.

Keywords: Inborn errors of metabolism; biochemical heterogeneity.; genetic and metabolic disorders; laboratory biomarkers; newborn screening; treatment strategies.