, Volume 33, Issue 5, pp 533-537
Date: 10 Oct 2009

Pathophysiology of fatty acid oxidation disorders

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Abstract

Mitochondrial fatty acid oxidation represents an important pathway for energy generation during periods of increased energy demand such as fasting, febrile illness and muscular exertion. In liver, the primary end products of the pathway are ketone bodies, which are released into the circulation and provide energy to tissues that are not able to oxidize fatty acids such as brain. Other tissues, such as cardiac and skeletal muscle are capable of direct utilization of the fatty acids as sources of energy. This article provides an overview of the pathogenesis of fatty acid oxidation disorders. It describes the different tissue involvement with the disease processes and correlates disease phenotype with the nature of the genetic defect for the known disorders of the pathway.

Communicated by: Ertan Mayatepek
Competing interest: None declared.
Presented at the Fulda-Symposium “Fatty Acid Oxidation: Clinical Biochemical and Molecular Aspects”, 12–14 November 2008