|22. Evaluation of Selected Short Chain Acylcarnitines in Blood Spots, Plasma and Urine by UPLC-MS/MS for the Differential Diagnosis of Branched-chain Organic Acidurias
|Tue 4:30 PM - PosterSplash Track 3
ARUP Institute for Clinical and Experimental Pathology
|View Long Abstract
|We have developed a method for the fractionation of short-chain acylcarnitines (C4, C5, C5OH) to assist in the differential diagnosis of branched-chain organic acidurias. The assay is performed on Acquity UPLC coupled with Premier tandem mass spectrometer operated in SRM mode. We have evaluated samples (blood spots, urine, plasma) from patients with several branched-chain organic acidurias and compared them to normal controls to validate this method.