Inborn Errors of Metabolism in India- Where We are At!
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India is going through a demographic switch in pediatric illnesses, from infectious, nutritional and birth related injuries, to another group of disorders related to the immune system and genetic makeup. This has largely been brought about by immunizations and improved health care, accompanied by twin occurrence of improved knowledge amongst pediatricians as well as increased availability of genetic and metabolic testing, aided by the advancements in technologies. This has shot up metabolic disorders, also known as inborn errors of metabolism (IEMs) into the lime light . Although the exact incidence of IEMs is not yet known in India, however, the identification of these IEMs is on the rise, and hence the article in this issue of the journal, by Ganesh et al. is apt. . Although the field of IEMs is vast, encompassing >1000 disorders and counting, with >300 of them identified in last 5 y or so , it is the more common ones that are being recognized by the pediatricians and...
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- 2.Ganesh R, Abinesh R, Janakiraman L. Clinical spectrum of inherited disorders of metabolism. India J Pediatr 2019. https://doi.org/10.1007/s12098-019-02998-1.