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Related Experiment Videos

A GC/MS/MS screening method for multiple organic acidemias from urine specimens.

T Hagen1, M S Korson, M Sakamoto

  • 1Department of Laboratory Medicine, Children's Hospital, Boston, MA 02115, USA. thagen@bidmc.harvard.edu

Clinica Chimica Acta; International Journal of Clinical Chemistry
|July 15, 1999
PubMed
Summary

This study presents a rapid gas chromatography-tandem mass spectrometry method for screening 14 organic acids in urine, aiding in the diagnosis of organic acidemias. The fast and accurate method is ideal for quickly identifying treatable inborn errors in critically ill patients.

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Area of Science:

  • Clinical Chemistry
  • Mass Spectrometry
  • Metabolic Disorders

Background:

  • Organic acidemias are a group of inherited metabolic disorders that can lead to severe health consequences if not diagnosed and treated promptly.
  • Early detection is crucial for effective management and prevention of complications.
  • Current diagnostic methods may be time-consuming, delaying critical treatment for acutely ill patients.

Purpose of the Study:

  • To develop and validate a rapid gas chromatography-tandem mass spectrometry (GC/MS) method for the simultaneous screening of 14 organic acids in urine.
  • To establish a quick and reliable diagnostic tool for identifying potential cases of organic acidemias, particularly in emergency settings.

Main Methods:

  • Urine samples were prepared using solid-phase extraction and derivatized to trimethylsilyl compounds.

Related Experiment Videos

  • Gas chromatography coupled with ion trap tandem mass spectrometry (GC/MS) was employed for analysis.
  • A panel of 14 specific organic acids, including methylmalonic acid and glutaric acid, were targeted as diagnostic markers.

    • Main Results:

    • The method demonstrated efficient extraction (57-106%) and a short run time of 10.0 minutes.
    • Diagnostic peaks were detected in all 10 patient samples at levels significantly above the reference range (≥5 times the upper limit).
    • The method showed high accuracy in identifying organic acids indicative of organic acidemias.

    Conclusions:

    • The developed GC/MS method provides a fast, reliable, and efficient means for screening organic acidemias.
    • Its rapid sample preparation and analysis make it suitable for the urgent metabolic assessment of critically ill infants and children.
    • This method can aid in the early diagnosis of treatable inborn errors of metabolism, improving patient outcomes.