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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
|May 7, 2005
PubMed

Insights

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.

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 genetics and neurology clinics.

Purpose of the Study:

  • To review selected inborn errors of metabolism.
  • 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.
  • Inclusion of data from Indian medical centers.

Main Results:

  • Selected IEMs are discussed with a focus on neonatal presentation.
  • Data from Indian centers are incorporated into the review.
  • Management principles for IEMs in developing countries are emphasized.

Conclusions:

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

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