Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants

Related Experiment Video

Updated: Oct 7, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

P Wasant1, E W Naylor, S Liammongkolkul

  • 1Department of Pediatrics, Siriraj Hospital Faculty of Medicine Mahidol University, Bangkok, Thailand.

The Southeast Asian Journal of Tropical Medicine and Public Health
|June 13, 2001
PubMed

Insights

This study highlights the prevalence of Inborn Errors of Metabolism (IEM) in Thai pediatric patients. Tandem mass spectrometry identified numerous metabolic disorders, emphasizing the need for advanced diagnostic tools.

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Inborn Errors of Metabolism (IEM) are a significant concern in pediatric populations.
  • Previous estimations suggested 2-4% of pediatric admissions in Thailand had suspected IEM, often diagnosed clinically due to limited facilities.

Observation:

  • A collaborative study utilized tandem mass spectrometry (MS/MS) for IEM diagnosis in high-risk infants and children.
  • 146 samples were analyzed between July 1993 and March 1998.

Findings:

  • The study detected a high prevalence of metabolic disorders, with 11.2% of tested individuals diagnosed with IEM.
  • Specific disorders identified include phenylketonuria, organic acidemia, maple syrup urine disease, and G6PD deficiency.

Implications:

  • The findings underscore the substantial burden of IEM in Thailand and the limitations of clinical diagnosis alone.
  • Implementing advanced diagnostic technologies like MS/MS is crucial for accurate and timely identification of IEM in pediatric patients.
  • Early diagnosis and intervention can significantly improve outcomes for children with metabolic disorders.

More Related Videos

Sample Preparation for Metabolic Profiling using MALDI Mass Spectrometry Imaging09:08

Sample Preparation for Metabolic Profiling using MALDI Mass Spectrometry Imaging

Published on: December 22, 2020

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis11:08

Proofreading and DNA Repair Assay Using Single Nucleotide Extension and MALDI-TOF Mass Spectrometry Analysis

Published on: June 19, 2018

Related Concept Videos

Peptide Identification Using Tandem Mass Spectrometry01:33

Peptide Identification Using Tandem Mass Spectrometry

Tandem mass spectrometry, also known as MS/MS or MS2, is an analytical technique that employs two mass analyzers. Essentially it is a series of mass spectrometers that helps isolate a particular biomolecule and then helps study its chemical properties.
This technique helps gather information regarding the protein from which the peptide was obtained and to study the peptides’ amino acid sequence. Identifying peptides from a complex mixture is an important component of the growing field of...
Tandem Mass Spectrometry01:21

Tandem Mass Spectrometry

Tandem mass spectrometry is a technique that uses multiple mass analyzers in series to obtain a higher selectivity and reduce chemical noise during analyte detection. Instruments with multiple analyzers separated by an interaction cell enable secondary fragmentation and selected study of the fragment ions.Secondary fragmentations occur in the interaction cell and can be induced by various factors. Fragmentation induced by collision with inert gases, such as N2, Ar, He, etc., is called...
MALDI-TOF Mass Spectrometry01:19

MALDI-TOF Mass Spectrometry

Mass spectrometry is a powerful characterization technique that can identify and separate a wide variety of compounds ranging from chemical to biological entities, based on their mass-to-charge ratio (m/z). The instruments that allow this detection, known as mass spectrometers, have three components: an ion source, a mass analyzer, and a detector. These spectrometers differ based on the nature of their ion source and analyzers.Matrix-assisted laser desorption ionization (MALDI) is a commonly...
Rapid Identification of Pathogens01:25

Rapid Identification of Pathogens

MALDI-TOF MS has transformed clinical microbiology by offering a rapid and reliable method for pathogen identification. The traditional approach to microbial identification typically involves time-consuming culture techniques and biochemical tests, which can delay the initiation of appropriate antimicrobial therapy. MALDI-TOF MS avoids these delays by using characteristic ribosomal protein mass patterns of microbial cells, enabling accurate species-level identification within minutes.Principle...