Year: 2017 | Month: Aug | Volume: 7 | Issue: 8 | Pages: 442-448
Screening of Inborn Errors of Metabolism – Use of Current and Future Technology in Indian Scenario
Nazmin Fatima1, Gyanendra Kumar Sonkar2, Shalini Tripathi3, Sangeeta Singh2
1Department of Biochemistry, Integral Institute of Medical Sciences & Research, Integral University, Lucknow, India
2Associate Professor, Department of Biochemistry, 3Department of Paediatrics; King George’s Medical University, Lucknow, India
Corresponding Author: Dr. Gyanendra Kumar Sonkar
IEM screening is a vital process that identifies apparently healthy infants with serious inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions before they suffer significant morbidity or mortality. IEM is autosomal recessive, the defective gene is present in both parents, and these can be passed on from generation to generation. The incidence of IEM varies in different geographical regions and different ethnic groups. Approach to metabolomics is important for detection of IEM because their basic pathophysiology is very much related to metabolism. Dried blood (and other biofluids) spots samples (DBS) have also been investigated. The most advanced and now a day’s used technologies includes nuclear magnetic resonance (NMR) spectroscopy], and mass spectrometry (MS), either combined or not to a gas phase or liquid phase separation method. Early recognition of IEM by screening tests in combination with strong clinical suspicion will help the clinicians to initiate prompt early treatment to prevent lethal neurological complications and developmental delay. The future of IEM diagnosis may be found in the developing area of metabolomics by doing simultaneous quantitative metabolic profiling of many metabolites in biological fluids.
Key words: IEM screening, Inborn errors of metabolism.