O-Methylmalonyl-L-carnitine belongs to the class of acyl carnitines. Acyl carnitines contain a fatty acid with the carboxylic acid attached to carnitine through an ester bond. The level of methylmalonyl carnitine has been found to be increased in patients with methylmalonuric aciduria (MMA), one of the most frequent organic acidurias caused by enzymatic defects involved in the catabolism of branched-chain amino acids.
We applied untargeted mass spectrometry-based metabolomics to the diseases methylmalonic acidemia (MMA) and propionic acidemia (PA). We used a screening platform that used untargeted, mass-based metabolomics of methanol-extracted plasma to find significantly different molecular features in human plasma samples from
Clinica chimica acta; international journal of clinical chemistry, 429, 30-33 (2013-11-26)
Methylmalonic aciduria (MMA) is one of the most frequent organic acidurias, a class of diseases caused by enzymatic defects mainly involved in the catabolism of branched-chain amino acids. Recently, mild MMA and C4-dicarboxylyl-carnitine (C4DC-C) accumulation have been reported in patients
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