Pathophysiology of fatty acid oxidation disorders

J Inherit Metab Dis. 2010 Oct;33(5):533-7. doi: 10.1007/s10545-010-9170-y. Epub 2009 Oct 10.

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Energy Metabolism* / genetics
  • Fatty Acids / metabolism*
  • Genotype
  • Humans
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / genetics
  • Lipid Metabolism, Inborn Errors / physiopathology*
  • Mitochondria / enzymology*
  • Mitochondrial Diseases / enzymology
  • Mitochondrial Diseases / genetics
  • Mitochondrial Diseases / physiopathology*
  • Oxidation-Reduction
  • Phenotype

Substances

  • Fatty Acids