Journal of Inherited Metabolic Disease

, Volume 33, Issue 5, pp 533–537

Pathophysiology of fatty acid oxidation disorders

FATTY ACID OXIDATION

DOI: 10.1007/s10545-010-9170-y

Cite this article as:
Bennett, M.J. J Inherit Metab Dis (2010) 33: 533. doi:10.1007/s10545-010-9170-y

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.

Abbreviations

CACT

carnitine-acylcarnitine translocase

CPT

carnitine palmitoyltransferase

FAO

fatty acid oxidation

GDH

glutamate dehydrogenase

LCHAD

long-chain 3-hydroxyacyl-CoA dehydrogenase

M/SCHAD

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

MCAD

medium-chain acyl-CoA dehydrogenase

SCAD

short-chain acyl-CoA dehydrogenase

TFP

(mitochondrial) trifunctional protein

VLCAD

very long-chain acyl-CoA dehydrogenase

Copyright information

© SSIEM and Springer 2009

Authors and Affiliations

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