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 preventmultiorgan impairment. Here, we review the recent developments in dissecting molecular bases of OAs by using integration of mass spectrometry- (MS-) basedmetabolomic and proteomic strategies.MS-based techniques have facilitated the rapid and economical evaluation of a broad spectrumof 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 ofMS-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.

Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias, / Imperlini, Esther; Lucia, Santorelli; Stefania, Orrù; Emanuela, Scolamiero; Ruoppolo, Margherita; Caterino, Marianna. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6141. - (2016). [10.1155/2016/9210408.]

Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias,

IMPERLINI, Esther;RUOPPOLO, MARGHERITA;CATERINO, Marianna
Ultimo
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 preventmultiorgan impairment. Here, we review the recent developments in dissecting molecular bases of OAs by using integration of mass spectrometry- (MS-) basedmetabolomic and proteomic strategies.MS-based techniques have facilitated the rapid and economical evaluation of a broad spectrumof 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 ofMS-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.
2016
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias, / Imperlini, Esther; Lucia, Santorelli; Stefania, Orrù; Emanuela, Scolamiero; Ruoppolo, Margherita; Caterino, Marianna. - In: BIOMED RESEARCH INTERNATIONAL. - ISSN 2314-6141. - (2016). [10.1155/2016/9210408.]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/636584
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