Title:Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting
Volume: 19
Issue: 1
Author(s): Sukhes Mukherjee*, Ashwin Kotnis, Suman Kumar Ray, Kannan Vaidyanathan, Snighdha Singh and Rishabh Mittal
Affiliation:
- Department of Biochemistry, All India Institute of Medical Sciences, Bhopal, Madhya Pradesh-462020, India
Keywords:
Inborn errors of metabolism, newborn screening, genetic and metabolic disorders, treatment strategies, laboratory biomarkers, biochemical heterogeneity.
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.
