This review highlights the prevalence of inborn errors of metabolism in India, indicating significant public health challenges stemming from limited newborn screening and genetic factors.
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.
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Singh et al. (2025) studied this question.
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