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Updated: Mar 16, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

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Recognition and diagnostic approach to acute metabolic disorders in the neonatal period

Sarar Mohamed1

  • 1Department of Pediatrics, King Khalid University Hospital and College of Medicine , King Saud University, Riyadh , Saudi Arabia.

Sudanese Journal of Paediatrics
|August 6, 2016
PubMed

Insights

Inborn errors of metabolism (IEM) are inherited disorders causing severe infant illness and death. This review helps pediatricians diagnose IEM early and cost-effectively, especially in resource-limited settings.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Inborn errors of metabolism (IEM) are inherited genetic disorders.
  • These conditions lead to significant neonatal morbidity and mortality.
  • Diverse clinical presentations complicate IEM diagnosis.

Purpose of the Study:

  • To equip general pediatricians with tools for recognizing IEM.
  • To guide appropriate and timely investigations for IEM.
  • To promote cost-effective diagnostic strategies, particularly in resource-limited areas.

Main Methods:

  • This is a review article.
  • It synthesizes current knowledge on IEM recognition and investigation.
  • Focuses on practical clinical application for pediatricians.

Main Results:

  • Early recognition of IEM is crucial for preventing severe complications.
  • Systematic investigation protocols can improve diagnostic yield.
  • Cost-effective approaches are essential for widespread applicability.

Conclusions:

  • Pediatricians play a vital role in the early detection of IEM.
  • Timely and appropriate investigations significantly improve patient outcomes.
  • Resource-conscious diagnostic strategies are needed globally for IEM management.

Keywords:
DiagnosisInborn errorsMetabolismNeonate

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