scholarly journals Management of COVID ‐19 infection in organic acidemias

2021 ◽  
Author(s):  
Shagun Kaur ◽  
Stephanie L. Campbell ◽  
David W. Stockton
Keyword(s):  
Organic Acidemias

Aminoacidemias and Organic Acidemias

2012 ◽  
pp. 328-356 ◽  
Author(s):  
Gregory M. Enns ◽  
Tina M. Cowan ◽  
Ophir Klein ◽  
Seymour Packman
Keyword(s):  
Organic Acidemias

Organic Acidemias

1976 ◽  
Vol 3 (1) ◽  
pp. 61-78 ◽  
Author(s):  
Maurice J. Mahoney
Keyword(s):  
Organic Acidemias

scholarly journals Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

2016 ◽  
Vol 2016 ◽  
pp. 1-13 ◽  
Author(s):  
Esther Imperlini ◽  
Lucia Santorelli ◽  
Stefania Orrù ◽  
Emanuela Scolamiero ◽  
Margherita Ruoppolo ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Molecular Mechanisms ◽  
Propionic Acidemia ◽  
Dried Blood Spots ◽  
Small Samples ◽  
Organic Acidemias ◽  
Propionate Metabolism ◽  
Economical Evaluation ◽  
Inherited Metabolic Disorders ◽  
Recent Developments

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.

Sign in / Sign up

Export Citation Format

Share Document