ArticleJournal of mass spectrometry and advances in the clinical lab2024
Liquid chromatography-mass spectrometric method for the simultaneous analysis of branched-chain amino acids and their ketoacids from dried blood spot as secondary analytes for the detection of maple syrup urine disease.
Article in Journal of mass spectrometry and advances in the clinical lab, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Association of BCAAs/BCKAs with pancreatic steatosis in patients with type 2 diabetes mellitus: A cross-sectional study.Journal of diabetes investigation · 2026Article
- LC-MS-Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor-Dependent Metabolic Disorders in Neonates.Journal of separation science · 2024Article
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5 authors.
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Abstract
Background: Maple syrup urine disease (MSUD) is an aminoacidopathy caused by a defective branched-chain alpha-ketoacid dehydrogenase complex, leading to the accumulation of branched-chain amino acids (BCAAs) and their respective keto acids (BCKAs). A comprehensive test was developed to measure BCAAs and BCKAs using LC-MS from dried blood spot (DBS) samples for the diagnosis and prevention of MSUD in newborns and infants. Methods: Analytes were extracted from DBS using a methanol:0.1 % v/v formic acid solution (75:25) containing internal standards and analyzed on a Luna PFP column (150 mm × 4.6 mm, 3 µm) at a flow rate of 0.3 mL/min. The method was validated for linearity, accuracy, precision, recovery, carry-over, matrix effect, hematocrit, blood volume, and punch position effects. Biomarker stability in the matrix and stock solution was assessed. Correlation with the plasma method was determined using Pearson's correlation coefficient and Bland-Altman analysis. The method established reference ranges for the Udupi district population in South India. Results: The method demonstrated linearity (r Conclusion: The developed DBS method, requiring no derivatization and involving simple sample preparation with short run times, is a cost-effective and reliable approach for the confirmatory diagnosis of MSUD.
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