Abstract
Quantification of pristanic acid, phytanic acid, and very long chain fatty acids (i.e., hexacosanoic, tetracosanoic, and docosanoic acids) in plasma is the primary method for investigateing a multitude of peroxisomal disorders (PDs). Typically based on GC-MS, existing methods are time-consuming and laborious. In this paper, we present a rapid and specific liquid chromatography tandem mass spectrometric method based on derivatization with 4-[2-(N,N-dimethylamino)ethylaminosulfonyl]-7-(2-aminoethylamino)-2,1,3-benzoxadiazole (DAABD-AE). Derivatization was undertaken to improve the poor mass spectrometric properties of these fatty acids. Analytes in plasma (20 mul) were hydrolyzed, extracted, and derivatized with DAABD-AE in approximately 2 h. Derivatives were separated on a reverse-phase column and detected by positive-ion electrospray ionization tandem mass spectrometry with a 5 min injection-to-injection time. Calibration plots were linear over ranges that cover physiological and pathological concentrations. Intraday (n = 12) and interday (n = 10) variations at low and high concentrations were less than 9.2%. Reference intervals in normal plasma (n = 250) were established for each compound and were in agreement with the literature. Using specimens from patients with established diagnosis (n = 20), various PDs were reliably detected. In conclusion, this method allows for the detection of at least nine PDs in a 5 min analytical run. Furthermore, this derivatization approach is potentially applicable to other disease markers carrying the carboxylic group.
Highlights
Quantification of pristanic acid, phytanic acid, and very long chain fatty acids in plasma is the primary method for investigateing a multitude of peroxisomal disorders (PDs)
We describe a novel approach for the simultaneous analysis of very long chain fatty acid (VLCFA), phytanic acid (Phy), and parent ions were recorded: 609 (Pri) that involves derivatization with DAABD-AE and stable isotope-labeled internal standards (ISs)
The importance of measuring VLCFAs for assessing peroxisomal functions has been recognized since the 1980s [24]
Summary
Quantification of pristanic acid, phytanic acid, and very long chain fatty acids (i.e., hexacosanoic, tetracosanoic, and docosanoic acids) in plasma is the primary method for investigateing a multitude of peroxisomal disorders (PDs). This method allows for the detection of at least nine PDs in a 5 min analytical run This derivatization approach is potentially applicable to other disease markers carrying the carboxylic group.—Al-Dirbashi, O. Peroxisomal disorders (PDs) are a heterogeneous group of congenital diseases caused by defective peroxisomes Dysfunctions of these cellular organelles disturb several metabolic pathways that mainly involve lipids and often result in a progressive multisystem disease [1,2,3,4]. In the peroxisome, both anabolic and catabolic functions occur. Other PDs share some of these symptoms, with widely varying severity, organ involvement, and survival [12]
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