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

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

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...

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Bibliographic Details
Main Authors: Arya Raveendran, Ashutosh Gupta, Leslie E. Lewis, Krishnananda Prabhu, Sudheer Moorkoth
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:Journal of Mass Spectrometry and Advances in the Clinical Lab
Subjects:
LC-MS
MSUD
Amino acids
Branched chain keto acids
Dried blood spot
Online Access:http://www.sciencedirect.com/science/article/pii/S2667145X24000324
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