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Related Experiment Videos

Inborn errors of metabolism (IEM) - an Indian perspective.

N B Kumta1

  • 1Department of Pediatrics, KEM Hospital, Mumbai, Maharashtra, India. nbkumta@hotmail.com.

Indian Journal of Pediatrics
|April 8, 2017
PubMed
Summary

Inborn errors of metabolism (IEM) are rare genetic disorders affecting children, often presenting in the neonatal period. This review highlights key IEMs and management strategies, particularly in developing countries.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEM) represent a heterogeneous group of genetic disorders.
  • These conditions manifest with diverse clinical symptoms, primarily affecting the pediatric population.
  • Collectively, IEMs account for a significant proportion of cases in pediatric genetic and neurology clinics.

Purpose of the Study:

  • To review selected inborn errors of metabolism (IEM).
  • To focus on IEMs presenting in the neonatal period.
  • To present data from Indian centers and emphasize management principles in developing countries.

Main Methods:

  • Literature review of inborn errors of metabolism.
  • Focus on neonatal-presenting IEMs.
Keywords:
ChildhoodInborn errors of metabolismIndiaNeurometabolic

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  • Inclusion of data from Indian centers.

    • Main Results:

    • Selected IEMs were reviewed, with a focus on neonatal presentations.
    • Data specific to Indian centers were analyzed.
    • Management principles for IEMs in developing countries were emphasized.

    Conclusions:

    • Inborn errors of metabolism are a significant diagnostic challenge in pediatrics.
    • Neonatal screening and timely management are crucial.
    • Adapting management strategies to resource-limited settings is essential.