mass spectrometry-based metabolomic and proteomic strategies in organic acidemias

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ID: 198233
2016
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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.
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imperlini2016biomedmass Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Esther Imperlini;Lucia Santorelli;Stefania Orrù;Emanuela Scolamiero;Margherita Ruoppolo;Marianna Caterino
Journal spectrochimica acta - part a: molecular and biomolecular spectroscopy
Year 2016
DOI
10.1155/2016/9210408
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