Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.

ABSTRACT: Because tandem mass spectrometry- (MS/MS-) based newborn screening identifies many suspicious cases of fatty acid oxidation and carnitine cycle disorders, a simple, noninvasive test is required to confirm the diagnosis. We have developed a novel method to evaluate the metabolic defects in peripheral blood mononuclear cells loaded with deuterium-labeled fatty acids directly using the ratios of acylcarnitines determined by flow injection MS/MS. We have identified diagnostic indices for the disorders as follows: decreased ratios of d₂₇-C14-acylcarnitine/d₃₁-C16-acylcarnitine and d₂₃-C12-acylcarnitine/d₃₁-C16-acylcarnitine for carnitine palmitoyltransferase-II (CPT-II) deficiency, decreased ratios of d₂₃-C12-acylcarnitine/d₂₇-C1

SUBMITTER: Yuasa M 

PROVIDER: S-EPMC6383405 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature