Please use this identifier to cite or link to this item: http://hdl.handle.net/2067/47162
Title: Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias
Authors: Imperlini, Esther 
Santorelli, Lucia
Orrù, Stefania
Scolamiero, Emanuela
Ruoppolo, Margherita
Caterino, Marianna
Journal: BIOMED RESEARCH INTERNATIONAL 
Issue Date: 2016
Abstract: 
Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly diagnosed and treated, whereas, in others cases, such as propionate metabolism-related OAs (propionic acidemia, PA; methylmalonic acidemia, MMA), neither diet, vitamin therapy, nor liver transplantation appears to prevent multiorgan impairment. Here, we review the recent developments in dissecting molecular bases of OAs by using integration of mass spectrometry- (MS-) based metabolomic and proteomic strategies. MS-based techniques have facilitated the rapid and economical evaluation of a broad spectrum of metabolites in various body fluids, also collected in small samples, like dried blood spots. This approach has enabled the timely diagnosis of OAs, thereby facilitating early therapeutic intervention. Besides providing an overview of MS-based approaches most frequently used to study the molecular mechanisms underlying OA pathophysiology, we discuss the principal challenges of metabolomic and proteomic applications to OAs.
URI: http://hdl.handle.net/2067/47162
ISSN: 2314-6141
DOI: 10.1155/2016/9210408
Rights: Attribution 4.0 International
Appears in Collections:A1. Articolo in rivista

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