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.

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 eff

SUBMITTER: Raveendran A 

PROVIDER: S-EPMC11531620 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature