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BioMed Research International
Volume 2016 (2016), Article ID 9210408, 13 pages
Review Article

Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

1IRCCS SDN, 80143 Naples, Italy
2CEINGE Biotecnologie Avanzate s.c.a.r.l., 80145 Naples, Italy
3Dipartimento di Scienze Motorie e del Benessere, Università di Napoli “Parthenope”, 80133 Naples, Italy
4Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli “Federico II”, 80121 Naples, Italy
5Associazione Culturale DiSciMuS RCF, Casoria, 80026 Naples, Italy

Received 19 February 2016; Accepted 15 May 2016

Academic Editor: Hai-Teng Deng

Copyright © 2016 Esther Imperlini et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.