The Indian Journal of Pediatrics

, Volume 85, Issue 12, pp 1110–1117 | Cite as

Status of Newborn Screening and Inborn Errors of Metabolism in India

  • Seema KapoorEmail author
  • B. K. ThelmaEmail author
Review Article


Inborn errors of metabolism (IEM) are a heterogeneous group of genetic disorders that cause significant neonatal and infant mortality. Expanded newborn screening which detects these disorders at birth is the standard preventive strategy in most countries. Prospective studies to evaluate the impact of these in the Indian population are lacking. The imminent need to address this lacuna warrants a review of available pan India data, as well as efforts for a carefully conducted prospective assessment of the burden of IEM. Published data on IEM in the Indian population comprising universal prospective screening and screening in selected subgroups (patients admitted to pediatric/neonatal ICUs, patients with developmental delay/mental retardation) was collected through a systematic search. The primary focus was to get an estimate of the disease burden in the Indian population. A true prevalence of IEM in India is not available. The systematic review identifies and stratifies the various situations where IEM are found. Data collected by universal screening of the low risk population is essential to identify the true prevalence of IEM in India.


Inborn errors of metabolism Newborn screening Prevalence Neonates India 



The authors are deeply indebted to Science and Engineering Research Board, New Delhi for funding their ongoing NBS study in Delhi state (Grant # IR/SO/LC-0001/2012). The exemplary vision of and valuable support from Dr. T. Ramasami, Former Secretary, Department of Science and Technology, New Delhi to initiate this study is gratefully acknowledged.


SK and BKT conceived the primary NBS project and generated funding support and completed the entire review. They both act as guarantors for the review.

Compliance with Ethical Standards

Conflict of Interest


Source of Funding

Science and Engineering Research Board, New Delhi for NBS study in Delhi state vide Grant # IR/SO/LC-0001/2012 is gratefully acknowledged.


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Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Division of Genetics and Metabolism, Department of PediatricsLok Nayak Hospital and Maulana Azad Medical CollegeNew DelhiIndia
  2. 2.Department of GeneticsUniversity of DelhiNew DelhiIndia

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