International Journal For Multidisciplinary Research

E-ISSN: 2582-2160   •   Impact Factor: 9.24

A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal

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Epidemiology of Inborn Errors of Metabolism (IEM) in India: A Comprehensive Review

Author(s) Dr. Indra Pratap Singh, Prof. Dr. Neha Singh, Dr. Piyush Kumar Singh
Country India
Abstract Inborn Errors of Metabolism (IEMs) comprise a heterogeneous group of genetic disorders caused by defects in enzymes, transporters, or cofactors involved in critical metabolic pathways. Individually rare, collectively these disorders represent a substantial public health challenge in India where consanguinity, high birth rates, and limited systematic newborn screening contribute to underdiagnosis.
Keywords Inborn Errors of Metabolism; India; Newborn Screening; LC-MS/MS; DELFIA; Lysosomal Storage Disorders; Urea Cycle Disorders; Organic Acidurias; Rare Diseases; National Policy
Field Biology > Medical / Physiology
Published In Volume 7, Issue 5, September-October 2025
Published On 2025-10-12
DOI https://doi.org/10.36948/ijfmr.2025.v07i05.57596
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E-ISSN 2582-2160
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