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Pathophysiology of fatty acid oxidation disorders
Author(s) -
Bennett M. J.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9170-y
Subject(s) - beta oxidation , ketone bodies , fatty acid , skeletal muscle , pathogenesis , disease , fatty liver , pathophysiology , fatty acid metabolism , metabolic pathway , biochemistry , mitochondrial disease , medicine , biology , metabolism , bioinformatics , mitochondrial dna , gene
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.