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The Indian Journal of Pediatrics

, Volume 86, Issue 10, pp 875–876 | Cite as

Inborn Errors of Metabolism in India- Where We are At!

  • Sunita Bijarnia-MahayEmail author
  • Ishwar C. Verma
Editorial Commentary
  • 21 Downloads

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 [1]. 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. [2]. Although the field of IEMs is vast, encompassing >1000 disorders and counting, with >300 of them identified in last 5 y or so [3], it is the more common ones that are being recognized by the pediatricians and...

Notes

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Verma IC, Bijarnia S. Inborn errors of metabolism in the neonatal period – is it time to change our practice? Indian J Pediatr. 2012;79:528–9.CrossRefGoogle Scholar
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    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.
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    Saudubray JM, Garcia-Cazorla À. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management. Pediatr Clin N Am. 2018;65:179–208.CrossRefGoogle Scholar
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    Sachdeva A. Dietary interventions for rare metabolic disorders - now available in India. Indian Pediatr. 2017;54:909–10.CrossRefGoogle Scholar
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    ICMR Task Force on Inherited Metabolic Disorders. Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia. Indian J Pediatr. 2018;85:935–40.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2019

Authors and Affiliations

  1. 1.Institute of Medical Genetics & GenomicsSir Ganga Ram HospitalNew DelhiIndia

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