Epidemiology of Inborn Errors of Metabolism (IEM) in India: A Comprehensive Review
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.
Authors
- Piyush Singh (ORCID: https://orcid.org/0000-0001-6409-2627)
- Neha Singh (ORCID: https://orcid.org/0000-0002-9788-0395)
- I.D. Singh
Publication Details
- Journal
- International Journal For Multidisciplinary Research
- Published
- 2025-10-12
- DOI
- https://doi.org/10.36948/ijfmr.2025.v07i05.57596
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00