Journal of Inherited Metabolic Disease

, Volume 33, Issue 5, pp 533–537 | Cite as

Pathophysiology of fatty acid oxidation disorders



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.



carnitine-acylcarnitine translocase


carnitine palmitoyltransferase


fatty acid oxidation


glutamate dehydrogenase


long-chain 3-hydroxyacyl-CoA dehydrogenase


medium- and short-chain 3-hydroxyacyl-CoA dehydrogenase


medium-chain acyl-CoA dehydrogenase


short-chain acyl-CoA dehydrogenase


(mitochondrial) trifunctional protein


very long-chain acyl-CoA dehydrogenase


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Copyright information

© SSIEM and Springer 2009

Authors and Affiliations

  1. 1.Department of Pathology & Laboratory MedicineUniversity of Pennsylvania and Children’s Hospital of PhiladelphiaPhiladelphiaUSA

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