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Status of Newborn Screening and Inborn Errors of Metabolism in India

Seema Kapoor1, B K Thelma2

  • 1Division of Genetics and Metabolism, Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India. drseemakapoor@gmail.com.

Indian Journal of Pediatrics
|May 9, 2018
PubMed

Insights

Inborn errors of metabolism (IEM) cause infant mortality, but India lacks data on their prevalence. Universal newborn screening is crucial for accurate assessment and prevention of these genetic disorders.

Area of Science:

  • Genetics
  • Pediatrics
  • Public Health

Background:

  • Inborn errors of metabolism (IEM) are genetic disorders leading to significant neonatal and infant mortality.
  • Expanded newborn screening is a standard preventive strategy globally for early detection of IEM.
  • India lacks prospective studies evaluating the impact and prevalence of IEM within its population.

Purpose of the Study:

  • To review available pan-India data on IEM.
  • To assess the disease burden of IEM in the Indian population.
  • To highlight the need for prospective studies to determine the true prevalence of IEM in India.

Main Methods:

  • Systematic search of published data on IEM in the Indian population.
  • Inclusion of data from universal prospective screening and screening in selected subgroups (pediatric/neonatal ICUs, developmental delay/mental retardation).
  • Stratification of data to identify situations where IEM are found.

Main Results:

  • A true prevalence of IEM in India is currently unavailable.
  • The review identifies and stratifies various scenarios where IEM are detected.
  • Existing data is fragmented and does not represent the overall Indian population.

Conclusions:

  • There is an urgent need for prospective studies to determine the true prevalence of IEM in India.
  • Universal screening of the low-risk population is essential for accurate IEM burden estimation.
  • Addressing this data gap is critical for implementing effective preventive strategies for IEM in India.

Keywords:
Inborn errors of metabolismIndiaNeonatesNewborn screeningPrevalence

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