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Prevalence and patterns of abnormal metabolic screening in pediatric acute encephalopathy: a PICU study from Egypt

Marwa Ibrahem Abdelrazic1, Mohamed S Hemeda2, Manar Anwar Abd-Elaziz1

  • 1Department of Paediatrics, Faculty of Medicine, Minia University, El-Minia, Egypt.

European Journal of Pediatrics
|April 23, 2026
PubMed

Insights

Inborn errors of metabolism (IEMs) are often missed in children with acute non-infectious encephalopathy. Metabolic screening identified IEMs in 26% of cases, highlighting the importance of early testing for timely diagnosis and treatment.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Critical Care Medicine

Background:

  • Inborn errors of metabolism (IEMs) are frequently underdiagnosed in children with acute non-infectious encephalopathy (NIE).
  • Prompt identification and intervention for IEMs are critical for improving patient outcomes.
  • This study addresses the diagnostic yield of metabolic screening in this vulnerable pediatric population.

Purpose of the Study:

  • To estimate the frequency and spectrum of IEMs suggested by metabolic screening in children with presumed NIE.
  • To identify clinical and biochemical predictors of IEMs in this cohort.
  • To evaluate the utility of early metabolic screening in a tertiary pediatric intensive care unit (PICU) setting in Egypt.

Main Methods:

  • A cross-sectional study was conducted involving 100 children with NIE admitted to a PICU.
  • Participants underwent comprehensive clinical, laboratory, and neuroimaging evaluations after excluding CNS infection.
  • Metabolic screening included tandem mass spectrometry (amino acids/acylcarnitines) and GC-MS (urine organic acids).

Main Results:

  • Abnormal metabolic screening suggestive of IEMs was found in 26% of children with NIE.
  • Amino acid disorders (38.5%), organic acidemias (34.6%), and fatty acid oxidation defects (26.9%) were the most common IEM types.
  • Higher ammonia levels (>93.5 μmol/L) and delayed motor development were independent predictors of abnormal metabolic screening.

Conclusions:

  • Metabolic screening reveals a significant proportion of IEMs among children with NIE in this Egyptian PICU.
  • Early metabolic screening, particularly utilizing biomarkers like ammonia, can aid in prioritizing patients for further diagnostic evaluation and management.
  • Integrating metabolic screening into the workup of pediatric NIE is crucial for improving diagnostic accuracy and patient survival.
Abstract

Keywords:
Acute encephalopathyForensic MedicineGC–MSInborn errors of metabolismMetabolic screeningMortality predictorsPostmortem Metabolic ScreeningSudden Unexplained DeathTandem mass spectrometry

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